Welcome to a repository of children's books discussing genetic conditions! These books were compiled to aid genetic counselors in supporting families and individuals with genetic conditions. This list was made possible by Ryan Brown-Ezell BS, Ashley Cannon MS, PhD, CGC, and R. Lynn Holt, MS, CGC along with contributions from many genetic counselors.
DISCLAIMERS: This list of children's books is not comprehensive and is representative of scoping reviews in addition to contributions by experts. More information can be found in Repository Methodology. The last update was the initial review with searches finalized on December 17, 2023. These resources have not been screened for accuracy. Inclusion on this list is not an endorsement by the authors of the resource for clinical use. It is recommended that any resource accessed from this list be reviewed for relevancy and accuracy prior to providing the resource in a clinical setting.
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22q deletion syndrome
Title/Author Publishing Info # of Pages Type of Book Relationship with Affected Individual Reading Level Year Added The abilities in me: 22q deletion, by Gemma Keir and Adam Walker-Parker Independently published, 2019 32 Story Main character 5th 2023 22Q at the Zoo by Manda Jenkins Betty and AL Books, 2015 32 Story Individuals with 22q 4th 2023 -
48 XXYY syndrome
Title/Author Publishing Info # of Pages Type of Book Relationship with Affected Individual Reading Level Year Added Kyle and his Extra X and Y by Arlie Colvin CreateSpace Independent Publishing, 2014 32 Story Main character 4th 2023 -
Albinism
Title/Author Publishing Info # of Pages Type of Book Relationship with Affected Individual Reading Level Year Added Uniquely Made: Stories from Children Living with Albinism by Alecia Abrahams Independently published, 2022 60 Story Main character 5th 2023 -
Alpha-1-Antitrypsin Deficiency
Title/Author Publishing Info # of Pages Type of Book Relationship with Affected Individual Reading Level Year Added Inside Hudson Pickle by Yolanda Ridge Kids Can Press, 2017 265 Chapter Main character 5th 2023 -
Angelman syndrome
Title/Author Publishing Info # of Pages Type of Book Relationship with Affected Individual Reading Level Year Added Genetic Gems by Abigail Turnwald MS CGC and Jessica Duis MD, MS Independently published, 2022 47 Story Sibling 6th 2023 Getting to Know You by Abigail Turnwald, Dr. Jessica Duis, Kelly Noris MS CGC Independently published, 2022 46 Story Sibling Unknown 2023 -
Apert syndrome
Title/Author Publishing Info # of Pages Type of Book Relationship with Affected Individual Reading Level Year Added A Day at the Beach by Letesha Wynette Martina Publishing Inc., 2022 24 Story Main character 5th 2023 The Monster Truck Park by Letesha Wynette Martina Publishing Inc., 2022 27 Story Main character 4th 2023 Apert Like Me by Letesha Wynette Martina Publishing Inc., 2023 40 Story Main character 4th 2023 -
Beckwith-Wiedemann syndrome
Title/Author Publishing Info # of Pages Type of Book Relationship with Affected Individual Reading Level Year Added A Different Story by Maya Grant and Anne D. Thompson CreateSpace Independent Publishing, 2017 28 Story Main character 5th 2023 -
CHARGE syndrome
Title/Author Publishing Info # of Pages Type of Book Relationship with Affected Individual Reading Level Year Added Hiya Moriah by Victoria Nelson Moriah and Friends, 2019 44 Story Main character 4th 2023 -
Chromosome differences
Title/Author Publishing Info # of Pages Type of Book Relationship with Affected Individual Reading Level Year Added Chromosome Kids Like Me by Annette Fournier Independently published, 2018 24 Story Not found Not found 2023 -
Collagen 6 deficiency (UCMD)
Title/Author Publishing Info # of Pages Type of Book Relationship with Affected Individual Reading Level Year Added Violet's Village: The Journey of a One-In-A-Million Girl by Kimberly Holmes Chalfant Eckhert, 2021 34 Story Main character 6th 2023 -
Congenital Disorders of Glycosylation
Title/Author Publishing Info # of Pages Type of Book Relationship with Affected Individual Reading Level Year Added A.Z.'s Adventures to the Sugar Tree Forest by Nara Garibyan Amour Science Foundation, 2022 32 Story Not found Not found 2023 -
Cystic Fibrosis
Title/Author Publishing Info # of Pages Type of Book Relationship with Affected Individual Reading Level Year Added No One Dies in the Garden of Syn by Michael Seidelman Chewed Pencil Press, 2016 276 Novel Main character 7th/8th 2023 The CF Warrior Project: 65 Stories of Triumph against Cystic Fibrosis by Andy C. Lipman BookLogix, 2019 214 Short stories Main character 6th 2023 The CF Warrior Project Volume 2 by Andy C. Lipman BookLogix, 2023 490 Short stories Main character, parent, other Highschool 2023 My CF Book by Michelle Bowers Independently published, 2023 25 Story Not found Not found 2023 Terry’s Journey to CF Land: Navigating the Adventures of Cystic Fibrosis by Terry Gene Wright Clovercroft publishing, 2021 32 Story Main character Not found 2023 Having Cystic Fibrosis is a Lot Like Being a Super Hero by Dr. Kelsey M. Finn Independently published, 2020 26 Story Main character 6th 2023 My DNA Diary: Cystic Fibrosis by Lisa Mullan Capman and Neil Dinky Press, 2018 56 Story Individuals with Cystic fibrosis 4th 2023 My DNA Diary: Sickle Cell Anemia by Lisa Mullan Capman and Neil Dinky Press, 2019 58 Story Individuals with Sickle Cell Disease 4th 2023 Salt in My Soul: An Unfinished Life by Mallor Smith Random House, 2019 320 Novel Main character 7th 2023 -
Down syndrome
Title/Author Publishing Info # of Pages Type of Book Relationship with Affected Individual Reading Level Year Added I Am Connor by Connor Rodriguez, Fred Rodriguez, and Marian Tinnelly Independently published, 2020 32 Story Main character 4th 2023 Prince Noah and the School Pirates by Solke Schnee Plough Publishing House, 2016 32 Story Main character 5th 2023 My Sister Has Down Syndrome by Stephanie Bentley Independently published, 2021 40 Story Sibling 5th 2023 47 Strings: Tessa’s Special Code by Becky Carey Little Creek Press, 2015 40 Story Daughter, for sibling 5th 2023 Nonverbal by Peggy Moffitt Earnest Independently published, 2019 239 Novel Sibling, child of narrator 6th 2023 The Abilities in Me: Down Syndrome by Gemma Keir Independently published, 2020 34 Story Main character 5th 2023 In My World: Down Syndrome by Gabriella Llano AuthorHouse, 108 108 Story Main character 4th 2023 Katie Can: A Story About Special Needs by Erin Palmer Ready readers, 2018 24 Story Main character 4th 2023 What’s Inside You is Inside Me, Too: My Chromosomes Make Me Unique by Deslie Wibb Quinby Deslie Quinby, 2014 28 Story Main character Not found 2023 Eli, Included by Michelle Sullivan Independently published, 2019 36 Story Main character 5th 2023 Why Are You Looking At Me?: I Just Have Down Syndrome by Lisa Tompkins AuthorHouse, 2013 32 Story Main character Not found 2023 Hannah’s Down Syndrome Superpowers by Lori Leigh Yarborough One Three Nine Inspired Press, 2019 40 Story Main character 4th 2023 Up and Adam by Debbie Zapata Kids Can Press. 2022 32 Story Main character 4th 2023 -
Duchenne Muscular Dystrophy (DMD)
Title/Author Publishing Info # of Pages Type of Book Relationship with Affected Individual Reading Level Year Added Big H and Little h Dog by Victoria Smith Bongtree Books, 2021 36 Story Main character 5th 2023 The Abilities in Me: Duchenne Muscular Dystrophy by Gemma Keir Independently published, 2021 37 Story Main character 5th 2023 The Muscle Ouchies by Ryan A. Nieves Independently published, 2020 61 Story Main character Not found 2023 Dan and DMD by Joseph Yasmeh CreateSpace Independent Publishing Platform, 2016 34 Story Main character 4th 2023 -
Fabry disease
Title/Author Publishing Info # of Pages Type of Book Relationship with Affected Individual Reading Level Year Added Can I Play If I Have Fabry? by Dawn A. Laney CreateSpace Independent Publishing, 2019 44 Story Child of narrator 4th 2023 The Mystery of the Smashed Statue: A Fabry Teen Camp Adventure by Dawn A Laney Createspace Independent Publishing, 2015 70 Story Main character 5th 2023 -
FOXG1 syndrome
Title/Author Publishing Info # of Pages Type of Book Relationship with Affected Individual Reading Level Year Added Joyfully Josie by Nicole Johnson Foxg 1 Research Foundation, 2023 44 Story Main character 6th 2023 -
Fragile X syndrome
Title/Author Publishing Info # of Pages Type of Book Relationship with Affected Individual Reading Level Year Added Fragile X Fred by Julia Bassell, Jayne Dixon Weber, and Jeannie Visootsak MD CreateSpace Independent Publishing, 2015 34 Story Not found Not found 2023 -
Hereditary Pheochromocytoma and Paraganglioma syndrome (HPPS)
Title/Author Publishing Info # of Pages Type of Book Relationship with Affected Individual Reading Level Year Added Emily Goes to the Doctor; Helping young kids understand Hereditary Pheochromocytoma and Paraganglioma Syndrome by Georgina Schlub, Sian Greening, Ashley Crook,; Jane Fleming, Kristine Barlow-Stewart, and Kathy Tucker Georgina Schlub, 2021 36 Story Main character 3rd 2023 -
Huntington's disease
Title/Author Publishing Info # of Pages Type of Book Relationship with Affected Individual Reading Level Year Added Grandma Has Huntington's Disease and It's Okay by Kelsea Finn Independently published, 2020 26 Story Grandmother 4th 2023 -
Kabuki syndrome
Title/Author Publishing Info # of Pages Type of Book Relationship with Affected Individual Reading Level Year Added I am Lucy by Chuck Neighbors Independently published, 2020 25 Story Main character 4th or lower 2023 -
Klinefelter syndrome (47, XXY)
Title/Author Publishing Info # of Pages Type of Book Relationship with Affected Individual Reading Level Year Added X-tra Special Me: a book about little boys with Klinefelter Syndrome (47XXY) by Pam Winters Independently published, 2023 33 Story Main character 4th or lower 2023 Gregory and his Extra X by Arlie Colvin CreateSpace Independent Publishing, 2014 32 Story Main character 4th 2023 -
Jacob's syndrome (47, XYY)
Title/Author Publishing Info # of Pages Type of Book Relationship with Affected Individual Reading Level Year Added Jack and his Extra Y by Arlie Colvin CreateSpace Independent Publishing, 2014 32 Story Main character 4th 2023 -
Li-Fraumeni syndrome
Title/Author Publishing Info # of Pages Type of Book Relationship with Affected Individual Reading Level Year Added The Hope of Elephants by Amanda Rawson Hill Charlesbridge, 2022 480 Novel Main character Unknown 2023 LFS and Living My Best! (pdf) by Emily A. Quinn, MS, CGC, Rose B. McGee, MS, CGC, Eliza Courtney,; Mencius, FHGSA (Gen Couns), Kami Wolfe Schneider, MS, CGC LFS Association's Genetic Counseling Advisory Group, 2021 24 Booklet Individuals with LFS 5th 2023 Emily Goes to the Doctor: Helping young kids understand Li-Fraumeni Syndrome by Georgina Schlub, Sian Greening, Ashley Crook,; Jane Fleming, Kristine Barlow-Stewart, and Kathy Tucker Georgina Schlub, 2021 36 Story Main character 3rd 2023 Robot Music: A Story for Kids with Li-Fraumeni Syndrome and Other Cancer Predispositions by Amy Peasgood Tellwell Talent, 2019 50 Story Main character 5th 2023 -
Lynch syndrome
Title/Author Publishing Info # of Pages Type of Book Relationship with Affected Individual Reading Level Year Added Mommy Has Lynch Syndrome and here's What That Means: A Guide for Kids by Dr. Kelsey M. Finn Independently published, 2020 24 Story Mother Unknown 2023 -
Lysosomal Storage disease
Title/Author Publishing Info # of Pages Type of Book Relationship with Affected Individual Reading Level Year Added Transitions: Managing Your Own Healthcare: What Every Teen with a LSD Needs to Know by Dawn A Laney MS CGC, Carol Ogg BS, Nadia Ali PhD Createspace Independent Publishing, 2013 48 Workbook Individuals with LSD 6th 2023 -
Marfan syndrome
Title/Author Publishing Info # of Pages Type of Book Relationship with Affected Individual Reading Level Year Added Brooke's Marvelous Journey: Embracing Differences with Mighty Brooke and Friends by Melody Lorenzo Independently published, 2023 27 Story Main character Not found 2023 -
Morquio A
Title/Author Publishing Info # of Pages Type of Book Relationship with Affected Individual Reading Level Year Added The Morquio A Quest by BioMarin BioMarin, 2021 16 Story Main character Not found 2023 -
Mucopolysaccharidosis
Title/Author Publishing Info # of Pages Type of Book Relationship with Affected Individual Reading Level Year Added Kendra's Lemonade by Kendra Gottsleben Ken Imagine, 2014 32 Story Main character, son Unknown 2023 -
Multiple contitions
Conditions included: Osteogenesis imperfecta, Fragile X syndrome, Sanfillipo, Down Syndrome, Mowat-Wilson syndrome, Moebius syndrome, Albinism, Achondroplasia, Muscular Dystrophy, Goldenhar syndrome, CHARGE, and KAT6A
Title/Author Publishing Info # of Pages Type of Book Relationship with Affected Individual Reading Level Year Added The ABCs of Inclusion: A Disability Inclusion Book for Kids by Beth Leipholtz Independently published, 2023 40 Picture Book Main character 5th 2023 -
Muscular Dystrophy
Title/Author Publishing Info # of Pages Type of Book Relationship with Affected Individual Reading Level Year Added Having Muscular Dystrophy is a Lot Like Being a Rockstar by Dr. Kelsey M. Finn and Francesca Mendenhall Independently published, 2020 25 Story Main character Unknown 2023 -
Neurofibromatosis type 1
Title/Author Publishing Info # of Pages Type of Book Relationship with Affected Individual Reading Level Year Added Living with Neurofibromatosis by Kirsty Ashton M.B.E. New Generation Publishing, 2014 322 Story Main character Not found 2023 My Life Beyond Neurofibromatosis: A Mayo Clinic Patient Story by Hey Gee and G.W. Page Mayo Clinic Press Kids, 2022 36 Comic Main character 7th/8th 2023 Just for Teens: Living with NF1 (pdf) by Ashley Dietrich BS, Heather Radtke MS CGC CTF and Children's Hospital of Wisconsin, 2015 16 Guidebook Individuals with NF1 6th 2023 Moxie and Sparx explain NF1 (pdf) by Children’s Tumor Foundation Children’s Tumor Foundation. 2019 6 Comic Main character 4th 2023 A Guide for Those Living with NF1: Diagnosed with Neurofibromatosis Type 1 (NF1) (pdf)by Children’s Tumor Foundation Children’s Tumor Foundation, 2021 32 Guidebook Individuals with NF1 7th 2023 Talking About Neurofibromatosis: A Guide For Teens (pdf) by St. Lois Children’s Hospital St. Lois Children’s Hospital, 2013 12 Guidebook Individuals with NF1 7th/8th 2023 Mary’s Brown Spots (pdf) by Roberto Montenegro MD, PhD and David H. Viskochil MD, PhD Neurofibromatosis Reference center and The University of Utah, 2013 22 Story Main character 5th 2023 The Girl with The “Café au Lait” Spots by Sonia N. Melandez and Jamaly Jimenez Independently publsihed, 2023 28 Story Main character Unknown 2023 -
Neurofibromatosis type 2
Title/Author Publishing Info # of Pages Type of Book Relationship with Affected Individual Reading Level Year Added Understanding NF2 (pdf) by Vanessa Shealy Children's Tumor Foundation, 2020 10 Comic Main character 7th/8th 2023 -
Noonan syndrome
Title/Author Publishing Info # of Pages Type of Book Relationship with Affected Individual Reading Level Year Added Anna's Big Week: A Story About Living with Noonan Syndrome by Rene Pierpont PhD CreateSpace Independent Publishing, 2018 40 Story Main character 4th 2023 -
Pompe disease
Title/Author Publishing Info # of Pages Type of Book Relationship with Affected Individual Reading Level Year Added Super Pompe Powers by Dawn A. Laney, Jennifer J. Propost, Eleanor G. Botha CreateSpace Independent Publishing, 2013 50 Story Main character 5th 2023 -
RUNX1-FPD
Title/Author Publishing Info # of Pages Type of Book Relationship with Affected Individual Reading Level Year Added RUNX-101: An Adolescent's Guide to Understanding and Communicating about RUNX1-Familial Platelet Disorder (FPD) (pdf) by National Institute of Health National Institute of Health, 2022 50 Guide Reader 7th/8th 2023 -
Severe Combined Immune Deficiency
Title/Author Publishing Info # of Pages Type of Book Relationship with Affected Individual Reading Level Year Added House of Robots by James Patterson, Chris Grabenstein Jimmy Patterson, 2015 326 Chapter Main character 6th 2023 -
Sickle cell disease
Title/Author Publishing Info # of Pages Type of Book Relationship with Affected Individual Reading Level Year Added Super Cells by Princess Walls Princess publishing, 2019 26 Story Main character Not found 2023 My Friend Jen: The Check Up by Jenica Leah JLG Publishing, 2020 24 Story Friend 4th 2023 A Sickle Cell Coloring Book For Kids by Elle Cole Cleverly Changing Press, 2020 60 Coloring Reader 5th 2023 ABC’s of Sickle Cell Disease by Elle Cole Cleverly Changing Press, 2021 56 Story Individuals with Sickle Disease Not found 2023 The Ultimate Sickle Cell Activity Book by Elle Cole Cleverly Changing Press, 2021 110 Story Individuals with Sickle Cell Disease 5th 2023 My Friend Jen: A Little Different by Jenica Leah JLG Publishing, 2016 24 Story Friend of main character 3rd/4th 2023 Cai's ABC's of Sickle Cell by Stoudemire and Richon Badger Cai Strong, 2023 60 Story Main character 5th/6th 2023 My Life Beyond Sickle Cell Disease: A Mayo Clinic Patient by Hey Gee and Golden Ella Mayo Clinic Press Kids, 2023 40 Story Main character Not known 2023 Why Me? by Jalen Jackson-Brown and Rick McCormick Quill and Company, 2023 40 Story Main character 5th 2023 -
Treacher Collins
Title/Author Publishing Info # of Pages Type of Book Relationship with Affected Individual Reading Level Year Added Normal: One Kid's Extraordinary Journey by Magdalena Newman, Nathan Newman Clarion Books, 2021 336 Story Main character 6th 2023 -
Trisomy X
Title/Author Publishing Info # of Pages Type of Book Relationship with Affected Individual Reading Level Year Added Elizabeth and her Extra X by Arlie Colvin CreateSpace Independent Publishing, 2014 36 Story Main character 4th 2023 -
Tuberous Sclerosis Complex
Title/Author Publishing Info # of Pages Type of Book Relationship with Affected Individual Reading Level Year Added Princess Katie the Brave: A Story About Living with TSC by Jennifer Flinn CreateSpace Independent Publishing, 2014 32 Story Main character 5th 2023 -
Turner syndrome (45, X)
Title/Author Publishing Info # of Pages Type of Book Relationship with Affected Individual Reading Level Year Added Today I became a Turner Syndrome Butterfly!: The Basics of Having Turner Syndrome-Kid Version, by Amy Jo Tihlarik Independently published, 2019 35 Story Main character 7th/8th 2023 Tina Talks Turner's: a Girl's Guide to Living with Turner Syndrome by Turner Syndrome Foundation Lulu Press, Inc., 2019 36 Story Not found Not found 2023 -
Usher syndrome
Title/Author Publishing Info # of Pages Type of Book Relationship with Affected Individual Reading Level Year Added Shine Brighter by Julianne Schmid 2 Little Princes, 2019 24 Story Main character Not found 2023 -
Williams syndrome
Title/Author Publishing Info # of Pages Type of Book Relationship with Affected Individual Reading Level Year Added Life with Williams Syndrome by Amy Miller Independently published, 2022 31 Story Main character 3rd/4th 2023 The Boy Who Loved Too Much: A True Story of Pathological Friendliness by Jennifer Latson Simon and Schuster, 2017 304 Novel Main character, son 7th 2023 Elise with the Great Smile: A First Look at Williams Syndrome by Kristen Cagadas Kristen Cagadas, 2022 32 Story Main character 4th 2023 -
Wolf-Hirschhorn syndrome
Title/Author Publishing Info # of Pages Type of Book Relationship with Affected Individual Reading Level Year Added Dancing with Daddy by Anitra Rowe Schulte Two Lions, 2021 40 Story Main character 5th 2023 -
X-linked lymphoproliferative disease
Title/Author Publishing Info # of Pages Type of Book Relationship with Affected Individual Reading Level Year Added One in a Billion: The Story of Nic Volker and the Dawn of Genomic Medicine by Mark Johnson, Kathleen Gallagher Simon and Schuster, 2016 256 Novel Main character 7th/8th 2023
*Reading grade level was estimated by using the Flesch Kincaid grade level calculator in Microsoft Word. Reading levels may not be accurate due to genetic terminology.
Repository Methodology
If a book was included in the original review process, “2023” was placed in the “when book was added column.” The original review process is outlines below. All other books were submitted by experts and added to the repository after the review was complete. Experts are defined as medical professionals who work in genetics such as genetic counselors and geneticists.
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Book Identification
A book to explain and disclose genetic conditions to a child was defined as a book written to disclose a genetic condition to a child, educate the child about their condition, or inform them about a condition in general. Relevant books were found by searching Google, Amazon, the electronic database PubMed, and receiving books from genetic counselors.
Gray literature searches were primarily utilized due to a preliminary search that identified more books could be found through gray literature than identified by searching electronic databases of scientific and medical literature. Gray literature is defined as “information produced by government agencies, academic institutions, and also the for-profit sector that is not typically made available by commercial publishers.” ("What Is Gray Literature? How Do I Search for It?")
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Search Strategy
Grey literature searches included the Google search engine and Amazon online retailer. Searches occurred between November 12 2023 and December 17, 2023. Identical search terms were used for all grey literature searches. It was identified that after the first 25 sites found on Google searches and 75 books from Amazon searches, saturation was reached.
A database of peer-reviewed published literature, PubMed, was also searched. Medical Subject Headings (MeSH) terms were used in the search string. Additional databases were not utilized due to inaccessibility of books using this method. Article timeframe was limited to January 1, 2013-December 12 2023 and all articles were recorded. If books were embedded in the article or could be easily accessed in supplemental material they were recorded, if not they were excluded. If a site or book provided a link to, mentioned, or cited a book reference, snowball searching was used to find the resource. Snowball searching is defined as “a way of tracking down related works by using the bibliography or reference list at the end of an article as a starting point.” (Searching: what is the snowball search method?, (2023).)
Correspondences with practicing genetic counselors revealed most children’s book knowledge came from colleagues. Therefore, the primary author (RBE) notified individuals about the research during her genetic counseling graduate school internship rotations and curricula. Genetic counselors volunteered their book knowledge of their own volition. Additionally, an email was sent to the UAB genetic counseling program Alumni requesting information about children’s books related to genetic conditions they have utilized in practice.
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Screening Process
Books identified by the searches and provided by genetics experts for the project were exported to Covidence [Veritas health Innovation, Melbourne, Australia], an online software utilized for managing systematic and scoping reviews. Any duplicates detected by the software were automatically removed. Books were independently screened by two investigators and discrepancies were resolved by a third investigator. Books met inclusion criteria if they
- Explained or disclosed a genetic condition,
- targeted children ages 0-17,
- were written in English,
- were published between January 2013-December 12 2023, and
- met the set definition of “book” (a resource that has a back and front cover with material between).
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Data Extraction
Data extraction of the books that passed through screening phases (97 books). The protocol was adapted from the Joanna Briggs Institute’s template for data extractions (Aromataris & Munn, 2020). Data extraction included genetic condition discussed, title of the book, author names, publisher, year published, number of pages, type of book, the relationship of the narrator with the individual affected, book access, reading level, and link to the book. If possible, the reading level was assessed by placing a minimum of 100 words from the book into Microsoft Word and utilizing the automatic Flesh-Kincaid grade-level test. If not possible, the book was still included but without an estimated reading level. Extracted data was collected in Microsoft Excel [Microsoft Corporation, Redmond, WA, USA].
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Limitations
The data review that was used to compile this list only identified books that were published between the dates January 2013 and December 12, 2023. The list only includes books that have been published in English. Therefore, this list is not all inclusive of all children’s books related to genetic conditions.
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References
- Aromataris, E., & Munn, Z. (2020). JBI Manual for Evidence Synthesis. In. JBI.
- “Searching: What Is the Snowball Search Method?” [RE]SEARCH Tips, Ghent University, 1 September 2023.
- “What Is Gray Literature? How Do I Search for It?” Welch Medical Library.
Interested in genetic counseling?
Let us know how we can help. Complete the prospective student interest form below.
Shadowing
Shadowing a genetic counselor is a great way to learn more about the genetic counseling field. Learn more about shadowing opportunities at UAB and surrounding areas.
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UAB Genetic Counseling Shadowing
Shadowing opportunities at UAB can be limited. Shadowers will be allowed to observe in two different clinics that are typically one-half day in length. Available clinics include: cancer genetics, prenatal genetics, pediatric genetics, and some specialty clinics.
UAB Genetic Counseling Clinics typically accept student shadowers May-August and in December. After you complete the required materials, you will be added to a waiting list and contacted when shadowing opportunities are available.
Shadowing Requirements
Year in School TB Skin Test Flu Shot Must be a rising junior or senior at an undergraduate institution or graduated from an undergraduate institution Documentation of a negative TB skin test from within the past 6 months Documentation of a flu shot received in the past year COVID-19 Vaccination Other Vaccinations HIPAA Training Documentation of COVID-19 vaccination card. At least two doses are required. Documentation of immunization or have titers drawn for: varicella, measles, and hepatitis B Complete UAB HIPAA training and provide certificate of completion. If you have a UAB email address and password, follow this link. Email This email address is being protected from spambots. You need JavaScript enabled to view it. if you are not affiliated with UAB for instructions.Student Interest Form Resume or CV Previous Shadowing Experience Complete the student interest form. Submit a resume or CV that includes educational background and any volunteer or work experiences Provide a brief summary of any previous genetic counseling shadowing experience to date. You can include this information when you submit requirements using the link below. A separate document is not required - Year in School - Must be a rising junior or senior at an undergraduate institution or graduated from an undergraduate institution
- TB Skin Test - Documentation of a negative TB skin test from within the past 6 months
- Flu Shot - Documentation of a flu shot received in the past year
- COVID-19 Vaccination - Documentation of COVID-19 vaccination card. At least two doses are required.
- Other Vaccinations - Documentation of immunization or have titers drawn for: varicella, measles, and hepatitis B.
- HIPAA Training - Complete UAB HIPAA training and provide certificate of completion. If you have a UAB email address and password, follow this link. Email
This email address is being protected from spambots. You need JavaScript enabled to view it. if you are not affiliated with UAB for instructions. - Student Interest Form - Complete the student interest form.
- Resume or CV - Submit a resume or CV that includes educational background and any volunteer or work experiences.
- Previous Shadowing Experience - Provide a brief summary of any previous genetic counseling shadowing experience to date. You can include this information when you submit requirements using the link below. A separate document is not required.
Use the link below to submit the shadowing requirements. Only submit the form after all requirements have been met. If all materials are received, you will receive a confirmation email with further instructions.
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Regional Genetic Counseling Shadowing
- HudsonAlpha Institute for Biotechnology, Huntsville, AL - Email Meagan Cochran at
This email address is being protected from spambots. You need JavaScript enabled to view it. if you are interested in shadowing. HudsonAlpha also offers a variety of summer internships, including an internship in genetic counseling. - Clearview Cancer Institute, Huntsville, AL - Email
This email address is being protected from spambots. You need JavaScript enabled to view it. to make a shadow request. Provide name, year in school, and potential dates of interest. CCI has shadowing paperwork that needs to be filled out before the shadow date, but that will be sent to the shadower once a date is confirmed. - Mitchell Cancer Institute, Mobile, AL - Email Cassie Gurganus at
This email address is being protected from spambots. You need JavaScript enabled to view it. to learn more about shadowing opportunities. - University of Mississippi Medical Center, Jackson, MS - Email or call Glenda Hicks to learn more about shadowing at the University of Mississippi Medical Center. Glenda’s email is
This email address is being protected from spambots. You need JavaScript enabled to view it. , and her phone number is 601-984-1900.
- HudsonAlpha Institute for Biotechnology, Huntsville, AL - Email Meagan Cochran at
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Alternatives to Shadowing
Check out our suggestions for ways to supplement and/or enhance knowledge of genetic counseling.
Interview a Genetic Counselor Read the Literature Podcasts/Online Video Content Aim to interview genetic counselors in different areas of the field (cancer, pediatric, prenatal, industry, other). You can find a genetic counselor by going to www.nsgc.org and clicking on ‘Find a Genetic Counselor.’ We suggest the Journal of Genetic Counseling and Genetics in Medicine as two clinically focused primary genetics literature sources. Search ‘genetic counseling’ in your favorite podcast streaming service or online video content provider. Attend an Information Session Search Professional Organization Websites UAB Online Shadowing Series Reach out to genetic counseling programs you are interested in and ask when they will be having an information session. Simulated Genetic Counseling Case Series - Interview a Genetic Counselor - Aim to interview genetic counselors in different areas of the field (cancer, pediatric, prenatal, industry, other). You can find a genetic counselor by going to www.nsgc.org and clicking on ‘Find a Genetic Counselor.’
- Read the Literature - We suggest the Journal of Genetic Counseling and Genetics in Medicine as two clinically focused primary genetics literature sources.
- Podcasts/Online Video Content - Search ‘genetic counseling’ in your favorite podcast streaming service or online video content provider.
- Attend an Information Session - Reach out to genetic counseling programs you are interested in and ask when they will be having an information session.
- Search Professional Organization Websites -
- UAB Online Shadowing Series - Coming soon
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Paid Positions
The UAB Genetic Counseling Clinics are hiring genetic counseling assistants with a start date of summer 2023.
Learn More
Virtual Shadowing Case Series
In collaboration with the UAB Department of Genetics and real patient families, the UAB Genetic Counseling Program has developed a virtual shadowing experience.
This case series features two prenatal and two pediatric genetic counseling sessions. Viewers can experience the patient journey from pre-test to post-test, and become familiar with the 'behind the scenes' work of a genetic counselor. There is no cost associated with viewing the series, and you can watch the cases at your own pace.
- Accreditation: The UAB Genetic Counseling Program received provisional accreditation in 2009 for the Accreditation Council for Genetic Counseling (ACGC) and admitted its first class in 2010. UAB received full, new program accreditation in 2013 and was re-accredited in 2019 for the maximum period of 8 years.
- American Board of Genetic Counseling (ABGC) Board Exam Pass Rates:
- All attempts: 71/84=84.52%
- All first time test takers: 66/74=89.19%
- First time test takers (2021-2023): 13/15=86.67%
- Attrition (2021-2023): 2/20 students=10%
- Graduation Rate (2021-2023): 18/20 students=90%
- Job Placement (2021-2023): 18/18=100% of graduates employed in the field of genetic counseling
Professor, School of Medicine Professor, School of Medicine Director of Research, Associate Professor, Department of Clinical and Diagnostic Sciences Vice President of Scientific Platforms, Southern Research Director of Licensing & New Ventures, Bill L. Harbert Institute for Innovation and Entrepreneurship, University of Alabama at Birmingham Associate Professor Biotechnology Regulatory Affairs Specialist Biotechnology Regulatory Affairs Specialist Assistant Professor Program Director, Biotechnology Chair, Department of Clinical and Diagnostic Sciences, Associate Professor, Biotechnology Program Manager II Program Manager II Program Coordinator II Program Coordinator II Assistant Professor Program Director, Clinical Laboratory Sciences Program Director, Physician Assistant Studies Program Co-Director, Biomedical and Health Sciences Program Co-Director, Biomedical and Health Sciences Program Director, Genetic Counseling Assistant Professor Assistant Program Director, Assistant Professor Program Director, Health Physics Assistant Professor Assistant Professor Co-Director of Clinical Education, Assistant Professor Instructor Instructor, Biomedical and Health Sciences Program Coordinator II Assistant Program Director, Genetic Counseling Professor Assistant Professor Assistant Professor Assistant Professor Assistant Professor Assistant Professor Associate Medical Director, Assistant Professor Assistant Professor Co-Director of Clinical Education, Assistant Professor Medical Director, Nuclear Medicine and Molecular Imaging Sciences Assistant Professor Associate Professor, Biomedical Sciences Medical Director, Physician Assistant Studies Assistant Professor Assistant Professor, Research Project Coordinator Assistant Professor Medical Director, Associate Professor Instructor Clinical Coordinator Credentialed Course Instructor
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Laurie Harrington, PhD
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Professor
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SHPB 434
205-934-4605
David Wood, MSPAS, PA-C
SHPB 480
205-934-4432
Floyd Josephat, EdD, MT(ASCP)
Professor
SHPB 478
205-934-1348
M. Tosi Gilford, MD, PA-C
Assistant Professor
SHPB 482
205-934-6941
Michael J. Herr PhD
Associate Professor
Department of Cell, Developmental and Integrative Biology
School of Medicine
VH 617
205-975-0021
Mamie Coats, PhD
Associate Professor
SHPB 455
205-996-0270
R. Lynn Holt, MS, CGC
Assistant Professor
SHPB 441
205-975-2922
Tera Webb, MS, MLS(ASCP)CM, PhD
SHPB 477
205-934-5985
Charles A. Wilson IV, PhD, CHP, CSP, CSLO
SHPB 447
225-329-8278
Emily A. Caffrey, PhD, CHP
SHPB 445
541-250-1975
Jenny Gao, PhD, MLS (ASCP)CM
SHPB 476
205-934-7638
Jana Villanueva, MSPAS, PA-C
SHPB 486
205-976-2911
Shanequa Roscoe
SHPB 142
205-975-5178
Kristen Bowen, M.Ed.
SHPB 453
205-975-7639
Tina Gunn
Physician Assistant Studies
SHPB 489
205-934-2004
Jessica Denton, MS, CGC, PhD
Assistant Professor
SHPB 448
205-934-6940
Muhammad Maqbool, PhD, MS, MSc
SHPB 450
205-934-7637
Allison Litton, DrPH
SHPB 483
205-934-4432
Brianna Miller, MS, MLS(ASCP)CM
SHPB 477
205-934-5995
Fallon Lotson, DHSc, PA-C
SHPB 466
205-934-3781
Alicia Gomes, MS, CGC
Genetic Counseling
SHPB 444
205-934-7299
Katie Hutto
Genetic Counseling
SHPB 400
205-975-4237
Rowell Ashford, II, MD
SHPB 432
205-934-5994
Liliana Navarrette
SHPB 435
205-975-2924
Heather F. Neighbors, MSPAS, PA-C
SHPB 487
205-975-0342
Jon Baldwin, D.O., MBS
JT 775
205-934-1388
Matthew Ward PhD, MS, RT(MR), CNMT
SHPB 471
205-934-3425
Victoria K. Gibbs, PhD
SHPB 473
205-934-7384
Donald Reiff, MD
KB 110
205-975-3030
Remo George, PhD
SHPB 452
205-934-7378
Ashley Cannon, MS, CGC, PhD
SHPB 483
205-975-2922
Erin Dorman, MSPAS, PA-C
SHPB 483
205-975-2328
Anna Hurst, MD, MS
VH VH1L
205-934-4983
Krystle W. Glasgow, MIS, CNMT, NMTCB(CT), NMAA, FSNMMI-TS
SHPB 442
205-996-6597
Rachel Nichols, MS, CHP
W. Cody Black, MHS, PA-C
SHPB 479
205-934-7563
Dina DeMarco, MS, PA-C
SHPB 481
205-996-2157
Samantha Giordano-Mooga, PhD
SHPB 425
205-996-1399
Wei Li, PhD
SHPB 485
205-996-2656
Tyler Wright, PhD
SHPB 474
205-934-5987
Christine Loyd, PhD
SHPB 462
205-934-9625
Stephanie Rudolph
CLS Program
SHPB 462
205-934-3783
Andrew Eaton
SHP Programs
SHPB 436
205-934-7635
Dustin Shaw
HP & NMMIS Programs
SHPB 451
205-934-1785
Tina Moore
Chair's Office
SHPB 432
205-934-5994
Kerry Glasscock, BS, R.T.(T)(ARRT)
Chair's Office
SHPB 437
205-934-7368
Norman Bolus, MSPH, MPH, CNMT, FSNMMI-TS
Amy Brady, MAED, CNMT
Assistant Professor
SHPB 446
205-934-3427
Ted Bertrand, PhD
SHPB 687
205-934-1374
Elizabeth Cloyd, BS, R.T.(R)(CT)(MR)
205-975-8835
N. Robert Estes II, PhD
SHPB 424D
205-934-7222
The UAB Genetic Counseling Program is fortunate to partner with experts across campus and across the country to deliver up to date, clinically relevant curriculum, unique clinical training opportunities, and access to cutting edge genetic and genomic research.
Partners/collaborations include faculty from:
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Ryan Brown-Ezell
Ryan is from Chattanooga, Tennessee. She graduated Magna Cum Laude from Birmingham-Southern College (BSC) in May 2022 with a Bachelor of Science in Biology and a distinction in Public Health. During her time at BSC she conducted research to identify β-amyloid plaques using a PrPc reporter gene and evaluated the E. coli concentration of sediment in Turkey Creek, Pinson Alabama. Ryan additionally traveled to Accra, Ghana where she gained insight and experience in various fields of pediatric healthcare and public health. As an undergraduate, she was a BSC work-study, advocated as a Southern Ambassador for her school, and served as a peer mentor to aid first-generation college students. She also led panhellenic sorority recruitment, worked on her sorority executive board, and gained experience as the secretary of the Alpha Epsilon Delta health pre-professional honors society. In addition to AED, Ryan was inducted into the Alpha Lambda Delta first-year honors society, Alpha Kappa Delta sociology honors society, Tri-Beta Biology honors society, Omicron Delta Kappa leadership honors society, and Mortar Board. Through her excitement for Genetic Counseling, she established a connection between BSC and UAB Genetic Counseling Program. The relationship not only further encouraged Ryan to pursue Genetic Counseling; but also forged permanent internship opportunities and educational resources for future BSC students.
Anna Crider
Anna is from Cincinnati, OH. She graduated from the University of Cincinnati in 2018 with a Bachelor of Science in biological sciences and a minor in accounting. Anna discovered genetic counseling in college and knew it was a path she wanted to pursue after taking time to live abroad. After college, Anna continued to work at Robert Bosch Automotive Steering in finance where she had been an accounting intern. She then moved to Spain to teach English as a second language and learn Spanish for a year. After returning to Cincinnati, Anna was a genetic navigator in Precision Medicine and Genomic Health at St. Elizabeth Hospital in Northern Kentucky for two years, where she was able to work with many genetic counseling specialties and a hereditary and high-risk cancer prevention clinic. Outside of work and school, Anna loves to volunteer in her community and dances for fun.
Georgia Haggard
Georgia is a native of Decatur, Alabama. She graduated Summa Cum Laude in May 2021 with High Distinguished Science and Technology Honors from The University of Alabama at Birmingham with a Bachelor of Science in Genetics and Genomics. She also received her Master’s in Multidisciplinary Biomedical Sciences in 2021. While an undergraduate student, she was afforded the opportunity to work in multiple biomedical research labs to gain research experience. One of these research experiences was through the Pediatric Oncology Education program at St. Jude Children's Research Hospital. Also, she was able to volunteer as a patient pal at Children's of Alabama on the Hematology and Oncology units, where she spent time with patients and their families. In addition to this, she was also able to host UAB's Science Olympiad tournament and receive the Goldwater scholarship. After graduation, she decided to work as a genetic counseling assistant for the UAB department of genetics, where she was able to gain experience in multiple clinic settings. Her primary role was to facilitate patient point of care testing as a part of UAB's interdisciplinary breast cancer care team. As a genetic counseling assistant, she was able to truly confirm her passion for genetic counseling and gained invaluable experience interacting with patients.
Julia Lanza
Julia is originally from Marietta, Georgia. She graduated from the University of Georgia in 2021 with a Bachelor of Science in genetics. As an undergraduate, she volunteered as a crisis text line counselor and a High School Outreach program director with UGA Miracle. Through UGA Miracle, she raised funds and hosted events benefitting the Children’s Healthcare of Atlanta. After graduation, she worked as a genetic counseling assistant in the Sibley Heart Center of Children’s Healthcare of Atlanta. As an assistant, she supported two genetic counselors and several cardiologists in the management of patients with inherited cardiovascular conditions. Responsibilities included database management, placement of orders, collection of patient information, communication with laboratories, and coordinating prior authorizations for testing. The opportunity provided incredible patient interaction alongside a multidisciplinary team and an invaluable education of cardiovascular conditions.
Audrey McBride
Audrey is from Harrisburg, Missouri. She graduated Magna Cum Laude from Columbia College in December of 2021 with a Bachelor of Arts in biology and a minor in psychology. During her undergraduate studies, Audrey worked for the University of Missouri’s urgent care running point of care tests and taking patient’s vital signs, gave campus tours as a Student Ambassador for Columbia College, and worked as a substitute teacher for elementary schools. During her time at Columbia College, she co-taught a freshman foundations course and mentored first-year students during their transition into rigorous college courses. Audrey has also volunteered as a Crisis Counselor for the Crisis Text Line, a fundraising volunteer for the Muscular Dystrophy Association, and as a Blood Donor Ambassador for the American Red Cross.
Victoria Moy
Victoria is from Chicago, Illinois. She graduated Summa Cum Laude from the University of South Carolina Honors College with a Bachelor of Science in Biology and a minor in Heath Promotion, Education, and Behavior. As an undergraduate she served as a crisis call line volunteer and hospital advocate for Pathways to Healing, an organization which supports survivors of sexual violence. In addition, she gained extensive research experience in public health, nursing, and molecular biology settings, and successfully defended her Honors College senior thesis about young adult electronic cigarette use. Finally, Victoria enjoyed playing the oboe in a university ensemble, taking active part in her sorority, and tutoring younger students in Organic Chemistry. Following her graduation in December of 2021, Victoria worked in a cancer genetics lab where she performed next-generation sequencing and organoid tissue culture. Her research was presented at the American Association for Cancer Research and JCA Joint Conference in December of 2022 and is currently under review for publication.
Hannah Olive
Hannah is from Charlotte, North Carolina. She graduated from Samford University in 2020 with a Bachelor of Science in Biology and a minor in Chemistry. While at Samford, she participated in research evaluating the contribution of nuclear gene mutations in the development of age-related symptoms in the mouse model of Rett Syndrome. During this time, she also served as a client advocate for a local crisis pregnancy center. After graduation she volunteered with the Genetic Counseling team at the UF Health Cancer Center in Gainesville, Florida and engaged with patients during the pre-test counseling process. She later spent two years working as a Genetic Counseling Assistant in the Genetics Department at the University of Alabama at Birmingham where she gained invaluable experience working with patients across a variety of specialties. As a GCA, she conducted a quality improvement project implementing a screening protocol for patients with hemihyperplasia and macroglossia. She presented the findings from this project at the Southeastern Regional Genetics Group Conference in 2021. These opportunities provided her with a well-rounded perspective of the field and hands-on experiences to confirm her passion for Genetic Counseling.
Molly Spangenberg
Molly is originally from Glen Carbon, Illinois. She graduated from the University of Arkansas in 2021 with a Bachelor of Science in public health and minors in biology and medical humanities. As an undergraduate, she volunteered as a crisis counselor and participated in an internship providing resources for cancer patients. After graduation, she worked as a genetic counseling assistant in the genetics department at Mount Sinai Hospital in New York, New York. While at Mount Sinai, she worked directly with cancer genetic counselors to coordinate care for patients and their families interested in genetic counseling. This opportunity provided valuable experience that prepared her for her graduate studies.
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Chelsea Anderson
Chelsea Anderson is from Harvest, Alabama. She graduated summa cum laude from Jacksonville State University in December 2021 with a Bachelor of Science degree in Cellular and Molecular Biology. Throughout undergrad, Chelsea held multiple leadership positions in JSU's music department. In the summer of 2020, Chelsea had the honor of participating in HudsonAlpha’s BioTrain Internship Program as a Genetic Counseling Intern where she contributed to data analysis of a published paper composed by clinical genetics teams from the United States and Canada. After graduation, Chelsea served as a genetic counseling assistant with the University of Alabama at Birmingham Department of Genetics where she gained valuable experiences in the field of genetic counseling. Currently, Chelsea serves as a Rape Response Advocate with the Birmingham Crisis Center, and she also serves in the children's ministry at Gardendale First Baptist Church. Chelsea plays the flute in the orchestra at Gardendale First Baptist Church where she is able to express her love of music, and she enjoys spending time with loved ones.
Jenna Duzs
Jenna Duzs is from Venice, Florida. She graduated from Florida State University in 2022 with a Bachelor of Science in Biological Sciences with a minor in Chemistry. As an undergraduate, she worked as a learning assistant for 3 years and volunteered in classrooms with children with special needs. After graduation, she worked as a genetic counseling assistant for the UF Health Aortic Disease Center in Gainesville, FL. As an assistant, she supported two genetic counselors and several cardiac surgeons in the management of patients with inherited cardiovascular aortic conditions. Her responsibilities included database management, administrative duties, and pedigree information collection. Jenna was given the valuable opportunity to attend weekly meetings with genetic counselors and biweekly aortic conferences with aortic surgeons. Her time as a GCA provided ample patient interaction alongside a multidisciplinary team, an invaluable education of cardiovascular conditions, and opened doors of opportunity to shadow the other specialties of genetic counseling that UF Health has to offer. Outside of work and school, Jenna loves learning more about people through her creative passion of photography.
Spencer Favor
Spencer Favor is from Bossier City, Louisiana. She graduated summa cum laude from the University of Alabama in May of 2023 with a Bachelor of Science in Biology with a minor in interdisciplinary studies in medicine and a Bachelor of Art in Spanish and history. As an undergraduate, Spencer worked as head genetics tutor for the Center for Student Success, volunteered at Druid City Hospital in Tuscaloosa, and was a director in Honors Action—a program that organized volunteer opportunities in local Tuscaloosa schools. All these opportunities led Spencer to the field of genetic counseling. After studying abroad in Spain for a summer and volunteering at a Spanish-language clinic in Tuscaloosa, Spencer decided she wanted to pursue genetic counseling for Spanish-speaking populations. Outside of genetics, Spencer presented her senior history thesis on the Greensboro Massacre at the University of Alabama Undergraduate Historical Conference. In her free time, Spencer enjoys spending time with her family and pets, crocheting, and doing jigsaw puzzles.
Anna Carpenter Harris
Anna Carpenter Harris is from Decatur, Alabama and attended the University of Alabama at Birmingham. She graduated summa cum laude with Distinguished Honors in April 2023 with a Bachelor of Science in Genetics and Genomic Sciences and minors in Biology and Chemistry. She also received a Master of Science in Multidisciplinary Biomedical Sciences in August 2023. Anna Carpenter worked at her university’s wellness program as a Promoter of Wellness where she conducted outreach to the UAB student body as well as working in the Rehabilitation Medicine Department at Children’s of Alabama. She also served as president of her sorority where she was named Sorority Woman of the Year by UAB Fraternity and Sorority Life. Anna Carpenter conducted cystic fibrosis undergraduate research and was nominated to be an honoree of Birmingham’s Finest through the Cystic Fibrosis Foundation. She found a passion for teaching and mentoring after becoming a biology learning assistant, a certified peer educator, and a peer mentor through the Accelerated Bachelor’s Master’s Program. Anna Carpenter also served on the executive council of UAB Dance Marathon to raise money and host events benefiting the patients of Children’s of Alabama where she became a top fundraiser for her university.
Riley Moore
Riley Moore is from Chicago, IL. She attended Marquette University in Milwaukee, WI where she majored in Biological Sciences and minored in Psychology. After undergrad, she moved to Kansas City to work as a genetic Counseling assistant at Children’s Mercy Hospital. She gained experience with research and patient interaction by working for a research study called Genomic Answers for Kids, a pediatric rare disease repository aiming to find a genetic diagnosis for patients and families. She saw families in genetics, cleft lip and palate, and 22q clinic and enrolled them into the study. While working as a genetic counseling assistant, she received her Master’s certificate in Human Genetics and Genomics. Outside of work, she volunteered as a BRIDGE advocate for people facing intimate partner violence and worked in multiple organizations for people facing diverse abilities. These organizations include Down Syndrome Innovations and Northland Therapeutic Riding Center. She also spent time working as a court appointed special advocate for children in the foster system due to abuse or neglect.
Madison Nee
Madison Nee is originally from Ardmore, Oklahoma. She graduated from the University of Oklahoma in 2020 with a Bachelor of Science in Community Health and minor in Spanish. She went on to earn a Master of Science degree in Biomedical and Health Sciences from The University of Alabama at Birmingham in 2021. As an undergraduate student, Madison gained experience aiding patients overcome adversity in healthcare while working with a non-profit medical clinic. She also served on the executive committee, and eventually as President of Crimson Wishes, a student-run-organization aimed to benefitting the Make-A-Wish children and families of Oklahoma. Following her studies, she spent two years as a genetic counseling assistant in the UAB Department of Genetics. This role provided her the invaluable opportunity to interact with patients and clinicians across multiple specialties, namely in interdisciplinary oncology clinics where she facilitated the pre-test counseling process for patients diagnosed with breast and colon cancer. In her free time, Madison enjoys spending time with her two cats, Lily and Bash, and tending to her collection of plants.
Katherine Sleckman
Katherine Sleckman is from St. Louis, Missouri. She graduated from the University of Georgia in 2021 with a Bachelor of Science in Biology and Psychology. As an undergraduate, she enjoyed tutoring elementary school students and working with the East Georgia Cancer Coalition. After graduation, she worked as a research assistant at Washington University in St. Louis in public health and genetic epidemiology. In her free time, she volunteered at Planned Parenthood as a patient advocate. During her second-year post-grad, she moved to Birmingham to work at UAB as a genetic counseling assistant supporting genetic counselors and geneticists by ordering testing, obtaining consent, reviewing medical records, and speaking with patients about genetic testing. After getting settled in Birmingham, she started volunteering with the Alabama Autism Assistance Program and continued as a counselor at the Crisis Text Line. These opportunities allowed Katherine to confirm her passion for genetic counseling and continue to stay involved in her community.
Erin Whiting
Erin Whiting is from Huntsville, Alabama. She graduated magna cum laude from Lipscomb University with a Bachelor of Science in Molecular Biology and minors in Chemistry and Psychology for Health Professionals. While at Lipscomb, she participated in research evaluating the interactions between cell surface protease neprilysin and PI3K cell signaling in triple negative breast cancer. Post-graduation, Erin spent two years working as a clinical research coordinator (CRC) at Vanderbilt University Medical Center on a pharmacogenomics clinical trial. The trial examined genes CYP2D6 and CYP2C19 to better prescribe drug therapies for acute pain, chronic pain, and depression. As a CRC, she recruited participants for the trial, educated participants on the purpose and process of pharmacogenomics testing, and completed enrollment activities with them. These invaluable experiences researching the molecular basis of disease and engaging with patients prepared her well for a career in the field of genetic counseling. In her free time, Erin enjoys doing jigsaw puzzles, exploring new coffee shops, and spending time outdoors.
At the UAB Genetic Counseling training program, students complete a Plan II graduate project. This is completed during our two-year master degree program. As you can see, our students work in a variety of areas and contribute to the knowledge base of our field in many ways. These titles and abstracts are updated annually.
Key:
* Selected for presentation at UAB Graduate Research Day
§ Awarded prize at UAB Graduate Research Day
† Selected for presentation at National Conference
# Resulted in a publication
Ω Awarded other campus competition or research award
^ Selected for platform presentation at National Conference
Projects
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Pharmacogenomics for Prader-Willi Syndrome: Caregiver Interest and Planned Utilization †
Background: Pharmacogenomics (PGx), the analysis of how an individual’s genetic variants impact gene-drug interactions, can be utilized to maximize drug efficacy, minimize adverse drug reactions, and reduce the lengthy trial and error process. One subpopulation who could potentially benefit from PGx are individuals with Prader-Willi syndrome (PWS). PWS is a rare, multisystemic genetic condition which can require multiple drugs for medical and behavioral management, with some individuals taking 10 or more drugs. Multiple drugs can increase the chances of adverse drug reactions. Individuals with PWS often require lifelong supervision by caregivers who aid in medical decision making. This study aimed to determine caregiver interest and planned utilization of pharmacogenomic (PGx) results for the person with PWS in their care.
Methods: In a larger study, caregivers of individuals with PWS recruited from the Foundation for Prader-Willi Research and the Global PWS Registry elected to participate in whole genome sequencing and consented to receive PGx testing. In this study, those caregivers completed an online survey assessing interest, planned utilization, and demographics prior to receiving PGx results.
Results: A total of 48 caregivers completed the survey. In the study, individuals with PWS took seven or more drugs (53.2%) and among those taking drugs, most required at least one drug or dosage change in the past two years (74.5%). The majority of caregivers were highly interested (93.8%) in their child’s PGx results, especially for drugs for behavior (89.6%). Caregivers ranked the most important outcome as drug effectiveness for current or future management (47.9%). Most planned to share results with their child’s medical providers (97.9%). However, while most caregivers felt comfortable discussing the report with providers (83.3%), they were less confident their providers would utilize the PGx results (47.9%).
Conclusion: Caregivers are interested in utilizing PGx but are uncertain that providers will use these results in their child’s clinical care. More information about provider comfort with PGx utilization is needed to understand how PGx education would benefit providers and ultimately patients with PGx results.
A Review of an Ehlers Danlos Syndrome Clinic: Clinical Outcomes and Patient Satisfaction †
Hypermobile Ehlers Danlos syndrome (hEDS) is a multisystemic connective tissue condition with symptoms that overlap with other hypermobility spectrum diagnoses, complicating both diagnostic process and subsequent patient care. A role for clinics specializing in hEDS could be delineating hEDS from other hypermobility spectrum conditions in order to appropriately diagnose and provide care recommendations for patients. This study aimed to describe the University of Alabama at Birmingham (UAB) EDS Clinic by using a retrospective review to characterize referral patterns and diagnostic outcomes as well as a prospective satisfaction survey for current patients attending the clinic. A retrospective review of 158 patient charts found that patients were more likely to be referred to the UAB EDS Clinic by family physicians (n=44, 28%), rheumatologists (n=33, 21%), and internists (n=24, 15%) than other providers. Patients were also more likely to be diagnosed with hypermobility syndrome (n=52, 32%) rather than hEDS (n=21, 14%). Of the patients diagnosed with hEDS (n=21), 24% were referred by family physicians, 19% were referred by rheumatologists, and 19% were referred by internists. Genetic testing was ordered for 33 patients (20%), 75% of which returned negative results. Genetic testing changed the diagnostic outcome for three patients that tested positive, two for other EDS subtypes and one for Loeys-Dietz syndrome. Patients diagnosed with hEDS had an average of eight comorbid diagnoses. These included rheumatoid arthritis (n=11, 52%), pain in various joints (n=8, 38%), and postural orthostatic tachycardia syndrome (n=8, 38%). The patient satisfaction survey had a completion rate of 33%. Overall, patients felt their concerns were taken seriously by the healthcare team (95%) and were satisfied with the care they received (86%). This study was able to provide information about the UAB EDS Clinic framework and patient population, which could be used to improve the patient referral process and assist in establishing hEDS diagnostic expectations for patients and providers.
An Evaluation of a Novel Virtual, Case-based Shadowing Experience for Prospective Genetic Counseling Student ^
Introduction: According to the Association of Genetic Counseling Program Directors, shadowing a genetic counselor is strongly recommended for prospective applicants. Shadowing allows prospective students to appreciate provider/patient interactions, learn more about specific areas of the field, and determine if a career is a good fit. Previous studies have outlined many barriers to shadowing, including a limited number of clinical genetic counselors, socioeconomic disadvantages among certain applicant populations, and visitor-restriction policies. Virtual, self-paced shadowing opportunities could reduce these barriers, but limited information is available concerning the utility of such experiences for prospective genetic counseling students.
Purpose: This research aimed to design and evaluate a virtual, simulated and self-paced shadowing experience for prospective genetic counseling students.
Methods: Four case modules were created and hosted in an online learning channel. Cases included two pediatric and two prenatal indications with varying complexity. Knowledge and reflection questions were included throughout each module. Each module included patient facing and non-patient facing roles of a genetic counselor and followed a patient from pre-test through their post-test counseling sessions. Participants were recruited from the GC Chat Discord© server and had to have, completed one or more case modules. Participants completed a pre-survey, a post-module survey for each module, and a final survey evaluating the case series overall. Module surveys assessed participants’ perceived increase in understanding of the genetic counseling process, the highlighted case indication, and roles of a genetic counselor. Quantitative responses were analyzed using descriptive statistics. Investigators performed deductive analysis of qualitative survey responses.
Results: Participants (n=43) identified as female (93.0%) and approximately half self-reported white ethnicity (55.8%). Many participants (49%) had prior shadowing experiences that were attended either in person or virtually. Mean scores on a Likert scale for each case module showed prospective students increased their understanding of the genetic counseling process (2.71/3), highlighted case indications (2.59/3), and the genetic counselor’s role in patient care (2.58/3). Participants noted the demonstration of non-patient facing roles, including collaborating with a medical geneticist, offered a unique perspective outside of traditional shadowing.
Conclusion: These results demonstrate the potential value of simulated, self-paced virtual shadowing experiences for prospective students to increase their genetic counseling exposure.
Genetics education for non-genetics healthcare providers: a scoping six year review
Due to the workforce shortage of genetics professionals, non-genetics healthcare providers (NGHPs) are increasingly ordering genetic testing and providing counseling about the results. NGHPs have long expressed need for continuing education to fill gaps in their genetic knowledge. The objective of this scoping review was to identify genetics education resources, specifically for post-graduate practicing providers, over the last six years and analyze the gaps in available resources for NGHPs. Relevant studies were identified by searching electronic databases of published literature and a variety of gray literature sources. Thirty-three studies published between January 2017 and December 2022 were included. Resources were most commonly intended for all types of health professionals (n=19), practicing in any specialty (n=13) and were accessible virtually (n=22). Resources were identified for nurses (n=8), pharmacists (n=4), and physicians (n=3). However, there was a lack of resources targeted for other non-genetics healthcare providers that are likely to engage with individuals and families impacted by a genetic condition, such as dentists, physical therapists, occupational therapists, psychiatrists, and psychologists. The most common medical specialties of resources were pharmacogenetics (n=10), general genetics (n=10), and oncogenetics (n=9). Although these areas of genetics are covered more frequently, there is still room for expansion; oncogenetics education needs to expand outside of female cancers, and pharmacogenetics resources for providers outside of pharmacists is needed. Resources dedicated entirely to genetics education in cardiology, ophthalmology, metabolics, and nephrology were scarce (n=1). No genetics resources were identified that covered neurology, hematology, or preimplantation genetics. As genetics continues to expand into different medical specialties, genetics education resources in cardiology, ophthalmology, metabolics, nephrology, neurology, hematology, and preimplantation genetics are vital for informing non-genetics providers about clinical applications of genetics. This review provides an updated compilation of genetics educational resources for NGHPs. We identified opportunities for genetics education to grow amongst different specialties and professions, and we provided suggestions for making an education resource successful.
Turner Syndrome Caregivers: A Supportive Care Needs Assessment †
Providing comprehensive care requires that health professionals address medical indications and the expressed needs of patients and caregivers. Self-reported care requirements are known as supportive care needs (SCNs) and fulfilling these expressed needs has been shown to improve patients’ quality of life. In the rare disease community, individuals’ SCNs are rooted primarily in the low prevalence of their specific condition. Despite their irrefutably crucial role, there is a persistent deficit in knowledge of the SCNs of caregivers in this community. This study aimed to quantitatively describe the SCNs of caregivers of children with Turner syndrome (TS), a relatively prevalent and well described rare disease which requires significant caregiver involvement. Additionally, we aimed to identify features of a child’s TS diagnosis that impact the needs of their caregiver. To assess TS caregivers’ SCNs, a modified version of the validated Parental Needs Scale for Rare Diseases was distributed to via the Turner Syndrome Research Registry (TSRR), the Turner Syndrome Society of the United States (TSSUS), clinics at the University of Alabama at Birmingham, and Facebook TS support groups. A total of 97 eligible responses were received, primarily from the TSRR and TSSUS. TS caregivers reported some level of unmet SCNs across five domains: understanding the diagnosis, working with health professionals, emotional issues, financial needs, and working with educators. Most commonly, caregivers reported financial needs (42%, n = 21) and over a quarter (26%, n = 25) cited a need for financial advising services. Some caregivers reported dissatisfaction in working with health professionals (36%, n = 35), mainly with how much health professionals know about TS (33%, n = 32). Compared to other rare disease parents, TS caregivers reported lower levels of unmet SCNs in understanding the diagnosis and working with health professionals (p < 0.01). These findings indicate that TS caregivers have unique SCNs, rooted primarily in affording care and satisfaction with providers’ knowledge of TS. Given this, medical institutions and advocacy groups should provide TS caregivers with resources for financial support and there should be efforts to improve provider knowledge of TS. Considering that certain features of a TS diagnosis impact caregiver needs, there is potential to proactively provide supportive resources to TS caregivers.
Adherence to Huntington’s Disease Pre-Symptomatic Genetic Testing Guidelines
Huntington’s Disease (HD) is an autosomal dominant, neurological disorder caused by a CAG trinucleotide repeat expansion in the HTT gene. Symptoms present in three areas: motor, cognitive, and psychiatric. There is no cure for HD, but individuals with a positive genetic test result may qualify for clinical trials. Pre-symptomatic genetic testing guidelines for HD were most recently amended by the Huntington's Disease Society of America (HDSA) in 2015. The guidelines outline best clinical practices for testing individuals at risk based on family history for HD by providing critical support no matter the outcome of the test. The HDSA annually certifies Centers of Excellence (COE's) across the United States. Each COE is a multidisciplinary clinic that offers pre-symptomatic genetic testing for HD. In this study we assessed the adherence of the HDSA COE's to the 2015 guidelines across 11 designated components. The self-reported genetic testing protocols of 55 HDSA COE's were analyzed to assess overall and component specific adherence. Overall protocol adherence was 52.2%. For the 11 specified guideline components, 10.1% were unmet and 37.7% of the time data was unclear. Level one and two centers had higher levels of adherence than level three centers. Demonstrating the more resources at a center’s disposal may lead to increased adherence. Genetic counseling and initial contact by telephone components had the highest adherence at 78.2% and 74.5%, respectively. The highest area of nonadherence were components relating to telemedicine (3 and 4) with an average of 40.9%. Telemedicine is utilized frequently at COE’s to continue to provide care for patients that may be at risk for HD despite current guidelines outlining an in-person model. Genetic counselors are part of COE staff frequently but for centers without a genetic counselor the quality of the genetic counseling discussion remains unclear. Some centers may have difficulty onboarding a genetic counselor due to the shortage of genetic counselors in the field. This study demonstrated that centers frequently follow the HDSA guidelines but utilize telemedicine despite recommendations. The pre-symptomatic testing guidelines should match the practices of expert clinician in the area and incorporate telemedicine in future amendments.
Industry Genetic Counselor Workforce Skills: Current Assessment of Non-clinical Genetic Counseling †
Introduction: Given the rapid growth industry genetic counseling has experienced in recent years, there is a need to re-examine the current workforce requirements of industry jobs. Non-traditional genetic counselors utilize a variety of skills in addition to those taught during genetic counseling training, however specific skills used in non-patient facing industry roles and the training methods utilized to learn them have not been well-characterized.
Purpose: The purpose of this study was to delineate skills used in different sectors of industry genetic counseling by measuring associations between job type and the skills required in the workplace.
Methods: An anonymous survey designed to assess the skills used in industry positions was distributed to industry genetic counselors (GCs) (n = 113) via the NSGC Student Research Survey E-blast. Respondents were categorized by job title into non-laboratory industry GCs (65%) and laboratory-based industry GCs (35%). Statistical associations between groups and workforce skills were calculated using Fisher’s Exact test.
Results: Non-laboratory industry GCs were more likely to use skills related to sales/marketing (p = < 0.001), business/entrepreneurship (p = < 0.001), creation of educational materials (p = < 0.001), research (test utilization [p = 0.006], test development [p = 0.011], research design [p = 0.047], research management [p = 0.018]), and recruiting new employees (p = 0.034). Conversely, laboratory-based industry GCs were more likely to perform skills such as variant interpretation (p = < 0.001) and report writing (p = < 0.001). Data trends also demonstrate that recent graduates from GC programs receive more training for clinical-laboratory crossover skills than those who graduated >5 years ago, which could allow recent graduates to transition into industry roles more easily. However, respondents indicated that skills used by non-laboratory industry GCs (tasks related to personnel management, research, sales/marketing, media writing, and business/entrepreneurship) were overwhelmingly self-taught, indicating an educational gap in genetic counseling training for non-laboratory industry positions.
Conclusions: These findings provide the most up-to-date insight into the workplace requirements of industry genetic counseling and could aid the development of non-traditional educational opportunities for individuals interested in industry positions. The data also highlights the increasingly diverse roles occupied by GCs in non-laboratory industry positions and the expansion of genetic counseling roles in industry.
Concurrent use of digital health tools with point-of-care testing improves access to germline genetic testing within a multidisciplinary gastrointestinal cancer clinic ^
Background: Germline cancer genetic testing could impact the treatment and screening of cancers for patients and their family members; however, many patients who qualify for testing do not get offered such testing. Individually, digital health tools (DHTs) and point-of-care (POC) genetic testing have improved cancer genetic testing access; however, little research has explored these tools regarding improving access to genetic testing in colorectal cancer clinics.
Aim: To assess whether DHT facilitated POC genetic testing improves identification of patients for genetic evaluation and genetic testing uptake in a multidisciplinary gastrointestinal cancer clinic.
Methods: Before and after study design. Outcomes included the proportion of patients identified for genetic evaluation and consented to genetic testing. In the before group, patients were identified for genetic evaluation by physicians and referred to a genetic counseling clinic to access testing. In the after group, identification and consenting were supported by DHTs, which were administered by genetic counseling assistants, and genetic testing was ordered without referral to a genetic counseling clinic (POC). Data was collected via chart review.
Results: Patients were female (51.8%) with an average age of 61.1 (SD=12.2), white (58.8%) or African-American (39.2%), and non-hispanic/latino (98.0%). In the before group, 6/24 (25%) patients were identified by their care team for genetic evaluation compared to 17/32 (53.1%) patients who were identified by the DHT in the after group (p = 0.03). DHT completion rate was 59.3% (19/32). In the before group, 0/24 (0%) patients consented for genetic testing compared to, 8/32 (25%) in the after group (p= 0.02).
Conclusion: The use of DHTs and a POC genetic testing model improves access to genetic testing within a multidisciplinary gastrointestinal cancer clinic.
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Parents’ Perspectives on Disclosing Pediatric Neurofibromatosis Type 1 Diagnosis #
Neurofibromatosis 1 (NF1) is a common genetic disorder typically diagnosed in childhood and characterized by cutaneous findings, nerve sheath tumors, skeletal abnormalities, malignancies, and developmental differences. Due to its variability, NF1 is an unpredictable condition that parents have concerns about discussing with their children. While there are publications addressing disclosure of genetic conditions in general, no NF1 specific disclosure literature exists.
To fill this gap, this mixed methods study sought to evaluate the concerns, barriers, failures, or successes parents or guardians have experienced when they have or have not chosen to tell their child(ren) about an NF1 diagnosis. Parents of children between ages 0-17 with a diagnosis of NF1 completed a survey with some respondents selected for an interview invitation. A total of 258 surveys were completed, and 20 parents were interviewed. Interview transcripts were categorized into disclosure and non-disclosure groups. Themes were organized into five categories based on interview questions: disclosure concerns, factors affecting the decision to disclose, approaches to disclosure, desired resources, and recommendations for disclosure. Sentiment analysis was performed on responses about the disclosure discussion itself. Results indicated that most parents (70.5%) disclosed the NF1 diagnosis to their child and overall felt it was a positive experience. Almost one-third of parents (29.5%) had not disclosed the diagnosis. A strong significance was identified between disclosure and severe presentation of NF1 (p=0.0008). Parents in both groups shared similar concerns about discussing the diagnosis and multiple factors influenced the disclosure decision. Most parents approached disclosure as a process and emphasized the need to be honest and supportive of their child. Parents highlighted the need for more educational resources for children and guidance on how to disclose. These findings indicate that additional resources and support for parents would facilitate disclosure and the involvement of genetic counselors in the process would be beneficial.
Genetic Counseling as a Method to Prevent Type 2 Diabetes in At-Risk Children
Background: The prevalence of type 2 diabetes in children is dramatically increasing. Most children diagnosed with type 2 diabetes have a family history of diabetes, but few studies have evaluated parental perceptions of their child’s risk to develop type 2 diabetes or their knowledge of strategies to prevent type 2 diabetes in their children. Genetic counselors are effective in providing information to parents about risk for their children to develop hereditary conditions and counseling on management guidelines. However, the utility of genetic counseling for parents whose children are at risk for multifactorial conditions such as type 2 diabetes is yet to be determined.
Objective: This study aimed to evaluate whether genetic counseling for parents with type 2 diabetes impacted perception of their child’s type 2 diabetes risk and knowledge of type 2 diabetes prevention strategies.
Methods: A prospective, cross-sectional study was implemented to recruit participants with type 2 diabetes who had a healthy child between the ages of 2-11. Participants were randomized into a control group or an intervention group that received a genetic counseling intervention via a recorded informational video and a brief in-person session. Surveys were given at the time of recruitment, immediately after the genetic counseling intervention (intervention group only) and one month after recruitment. Differences in risk perception and knowledge of prevention strategies in the intervention group were measured directly after the intervention using paired samples t-tests and over time using one-way ANOVA. Differences in the control group and intervention group were compared at one month post intervention using one-way ANCOVA analyses with pre-test scores as a covariate.
Results: A total of 22 participants, all female and between the ages of 23-43, have participated in the study to date. The intervention group significantly increased their diabetes risk knowledge as measured by the risk perception scale directly after the intervention (p=0.002), and this increase remained significant at one-month post intervention (p=0.022). The intervention group had significantly increased knowledge of prevention strategies directly after the intervention (p less than 0.001) and at one-month post intervention (p less than 0.001). The intervention group did not increase their overall risk perception for their child to develop type 2 diabetes directly after the intervention or at one-month post intervention. At one-month post intervention, there were no statistically significant differences between the control and intervention group for risk perception or diabetes risk knowledge (p=0.075 and p=0.069 respectively), but there were significant differences in knowledge of prevention strategies (p=0.017) and the Child Feeding Score (p=0.039), which represents implementation of prevention strategies. In addition, when asked specifically about how family history impacts their child’s risk to develop type 2 diabetes, the intervention group showed an increased understanding compared to the control group. The genomic outcome scale evaluated the impact of genetic counseling on participants and displayed significant increases in empowerment at one-month post intervention (p=0.035).
Conclusions: This study showed that genetic counseling increased parental knowledge of risk for diabetes, knowledge of how family history impacts risk for their child to develop type 2 diabetes, and knowledge of prevention strategies. It also showed that parents were implementing some of the suggested prevention strategies at one-month post intervention. Genetic counseling for parents whose children are at risk for multifactorial conditions will likely increase in the future, so further exploration on how to provide effective counseling in this area is warranted.
Pilot Project: Online Modules Increase Knowledge of Lysosomal Storage Disorders in Genetic Counseling Students
Introduction: Lysosomal storage disorders are rare inborn errors of metabolism that can lead to progressive deleterious effects, causing significant morbidity and mortality. These conditions are estimated to affect 1 in 7,000 live births. It is essential for health care providers to be able to recognize and diagnose these conditions in order to facilitate early treatment and consequently provide the best possible outcome for the patient.
Methods: To increase knowledge and awareness of lysosomal storage disorders among health care professionals, three online modules were created that included clinical scenarios of patients with mucopolysaccharidosis type 1 (MPS1), Pompe, and Gaucher disease. Each module is approximately 5-10 minutes in length and guided the participant through an initial patient presentation, testing options/results, diagnosis, treatment options, and genetic counseling considerations. A pilot study to assess the effectiveness of these modules was performed with 9 genetic counseling students. Participants answered knowledge-based questions before and after each module. Additional questions were asked to evaluate participants perception of the design and usability of the modules at the conclusion of the modules.
Results: The average pretest scores for the 9 first- and second-year genetic counseling students who participated in the study was 48% compared to the average posttest scores of 96%. Participants overall perception of the design and usability of this resource was positive. Conclusion: Our study demonstrated that these online modules increased knowledge and understanding of lysosomal storage disorders in our pilot group. Due to the small sample size, the relevance of our findings to other health care professionals is limited. However, the initial findings suggest this resource could potentially be an effective resource for other health care professionals to better understand the etiology, clinical manifestations, treatment options, and genetic counseling considerations for patients with lysosomal storage disorders.
Conclusion: Our study demonstrated that these online modules increased knowledge and understanding of lysosomal storage disorders in our pilot group. Due to the small sample size, the relevance of our findings to other health care professionals is limited. However, the initial findings suggest this resource could potentially be an effective resource for other health care professionals to better understand the etiology, clinical manifestations, treatment options, and genetic counseling considerations for patients with lysosomal storage disorders.
Transitional Needs in Patients with a Genetic Condition in a Formal Transition Program
Introduction: The need for transition services from pediatric to adult healthcare increases as the survival rate of individuals with chronic health conditions increases. As young adults with genetic conditions navigate the process of healthcare transition, it is necessary to understand their needs to inform the implementation and improvement of formal transition programs. Currently, there is little research regarding healthcare transition programs for patients with a genetic condition. The purpose of this study was to better understand the impact of a genetic diagnosis on transitioning to adult healthcare, identify areas of need regarding transition in patients with a genetic condition, and assess the effectiveness of a formal transition program for individuals with a genetic diagnosis.
Methods: A mixed methods approach was utilized to obtain both quantitative and qualitative data. Participants with a genetic diagnosis were recruited through a formal transition program that assists young adults aged 18 or older with chronic health conditions transfer from pediatric to adult healthcare. Survey, interviews, and Transition Readiness Assessment Questionnaire (TRAQ) data were analyzed with descriptive statistics and inductive coding to assess the participants healthcare transition experience.
Results: Of the 18 participants that completed a survey, 12 also completed an interview. Participants were found to have varying levels of condition knowledge with an average of 3.89/5 on the survey and expressed a need for more resources (e.g., condition updates, support resources, research information) regarding their genetic condition. The median of the overall TRAQ score (4.6/5) was higher than the average reported level of transition readiness (3.56/5) on the survey. Varying levels of genetic condition impact on the transition process were reported with an average of 2.94/5 on the survey. In the qualitative interviews, ten participants (83.33%) expressed satisfaction with the transition program.
Conclusions: Data from this study supports a formal transition program as an effective healthcare transition intervention for those with a genetic condition, and the implementation of these programs should be considered at other institutions. Based on these findings, healthcare providers should consider referring their patients with a genetic condition to a genetics provider during the transition period. Additionally, formal transition programs should consider including a genetics provider as a member of the multidisciplinary healthcare team.
Factors Associated with Patient Attendance at Disclosure of Germline Results: A Retrospective Chart Review of a Pediatric Cancer Predisposition Clinic
Child, adolescent, and young adult (CAYA) attendance at genetic counseling appointments has the potential to improve their understanding of genetic information and adherence to medical management guidelines. However, the current literature does not describe factors related to this patient population’s attendance to these appointments.
Using a retrospective chart review, demographic and clinical data were extracted for CAYA (ages 8-25) who received care at the St. Jude Children’s Research Hospital Cancer Predisposition Clinic between 2017 and 2019. SPSS univariate and multivariate regression was then used to compare collected variables to CAYA attendance. CAYA patients who attended disclosure appointments were more likely to be older (p=0.03), have fewer first-degree relatives with cancer (p=0.03), and have mental health concerns (p=0.076). Patients scheduled for an in-person appointment (p=/less than 0.001) whose mother did not attend their genetic counseling appointment (p less than 0.001) but their siblings (p less than 0.001) did accompany them to the appointment were also more likely to be in attendance. Families whose disclosure was in-person were more likely to be Hispanic (p=0.001), have fewer first-degree relatives affected with cancer (p=0.005), actively be receiving cancer treatment (p=/less than0.001), and be diagnosed with a blood cancer (p=0.008). These findings demonstrate factors that should be considered when scheduling CAYA patients and when they may be less likely to attend. CAYA may be more likely to attend their results disclosure appointments under certain conditions. In cases where this may not be as likely, a genetic counselor should encourage parents to include their CAYA in their genetic testing results disclosure appointments or at a minimum encourage conversation within the family to ensure they receive full and accurate information regarding their genetic testing results.
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Assessing the Use of High-Fidelity Simulation to Integrate Cultural Competency Skills in Genetic Counseling Training†Ω
Introduction: Religious and spiritual (RS) beliefs are cultural values that may be central to the way patients cope with difficult information. In accordance with the field’s practice-based competencies, genetic counselors must be trained to sensitively explore RS beliefs to better understand patients’ decision-making and support systems. No studies exist which evaluate the use of high-fidelity simulation (HFS) as a tool for training cultural competency values in genetic counseling training programs.
Purpose: This pilot study aimed to provide insight into the development, implementation, and evaluation of high-fidelity simulation’s effectiveness as a training modality for genetic counseling cultural competence training.
Methods: Participants (n=7) included genetic counseling students at the University of Alabama at Birmingham. The simulation scenario required students to discuss a positive first-trimester serum screen with an outwardly religious simulated prenatal patient. Student perceptions on simulation helpfulness, level of confidence and/or comfort, and overall attitudes related to addressing RS beliefs were assessed using a mixed-method approach through pre- and post-simulation surveys. Paired Likert scaled questions were compared using a two-tailed t-test and open-ended responses were coded in grounded theory methodology.
Results: Following the simulation, students noted a significant increase in comfort related to addressing religious and spiritual beliefs in the future (p = 0.045). Students agreed that the simulation was a safe and helpful way to practice culturally competent counseling skills. Common themes included pre-simulation concerns of upsetting the patient and balancing scientific information with religious beliefs. Post-simulation responses demonstrated students found it challenging to ask follow-up questions related to these beliefs.
Conclusion: This study sets the foundation for future research in high-fidelity simulation training on additional areas of cultural competency and across multiple training programs in the genetic counseling setting. Our study supports the use of HFS as an effective training modality for cultural competency in the genetic counseling setting.
Whole Genome Sequencing in Adults: Experiences and Outcomes Among Probands and Caregivers†
While there is significant research about pediatric proband experience with genome sequencing (GS), little is reported about the adult proband’s experience with GS. This study aimed to explore the adult experience with GS, including psychosocial and psychological impacts with receiving results, and adult’s needs based on this impact. An online survey was distributed to 38 adult participants, which returned 10 survey responses. Follow up semi-structured qualitative interviews were conducted for eight survey respondents, which included one caregiver. All participants had a basic understanding of their result, including their result type and general knowledge of its meaning. A majority (7/8) of interview participants experienced confusion about GS or their result, and disappointment and frustration regarding their result. Additionally, participants often reflected on their own challenges with rare disease when providing reason for the emotions they experienced and reported a general interest in learning more information. All survey (10/10) and interview (8/8) participants reported that they did not experience regret after receiving GS results, indicating low levels of decision regret among adult participants regardless of result type. Overall, these results emphasize the unique challenges for adults that undergo GS and pre- and post-test GS counseling considerations for this unique group. Despite reported low levels of regret, findings of this study show that additional counseling at time of result return – specifically regarding the meaning of a nondiagnostic result in the setting of rare adult disease – may be helpful for adults undergoing GS.
Developing an Informed Intimacy Resource for Individuals with Neurofibromatosis 1†
Neurofibromatosis type 1 (NF1) is an autosomal dominant condition characterized by cutaneous neurofibromas, café-au-lait macules, skinfold freckling, optic gliomas, Lisch nodules, plexiform neurofibromas, learning disabilities, bone deformities, and cancer. The visible features of NF1 are associated with psychosocial distress, significant impacts on self-esteem, and increased sexual self-consciousness, which can affect potential and current intimate relationships for patients. To date, there are no specific intimacy resources for individuals with NF1 available, despite both patients and providers reporting the need for such materials.
The purpose of this study was to better understand the impact of NF1 on intimacy as well as educational and psychosocial information desired by the adult NF1 population on the topic of intimacy in order to develop a patient-centered resource. A qualitative study was performed using semi-structured interviews to explore the impact of NF1 on intimacy and gather suggestions for information to include in an intimacy resource. Participants were recruited through an NF1 patient advocacy organization registry. Participants completed a demographic survey, and 10 were selected to complete semi-structured interviews. Participants were selected to represent diverse backgrounds and relationship experiences. Data from interviews were transcribed and analyzed using thematic analysis. The impact of NF1 on intimacy can be categorized into three distinct themes including psychological, physical, and social impacts. Subthemes included were self-consciousness, low self-esteem, pain related to NF1, concern for negative reactions from others, and challenges initiating romantic relationships. Participants discussed that important topics to include in the resource are how to talk about NF1 and intimacy, appropriate specialists to see, and ways to connect with other NF1 patients. Participant feedback on ways to improve intimacy encompassed personal actions or behaviors and interactions with partners including self-acceptance, communication, and self-discovery. Based on the feedback from these interviews, an informed resource was developed. This resource provides helpful information for providers and patients affected by NF1 on the topic of intimacy and includes potential suggestions for addressing and improving intimacy in relationships.
The Effect of Marfan Syndrome on Reproductive Decision Making among Adult Women†
Marfan syndrome (MFS) is a hereditary condition associated with significant health concerns including aortic dissection. When considering pregnancy, individuals with MFS are confronted with the risk of passing the condition on to their children as well as the increased risk of life-threatening cardiac complications.
This study addressed the understudied question of how a diagnosis MFS impacts reproductive decision making. The hypotheses were that MFS would have an impact on reproductive decision making, individual health would be a greater factor than risk of passing the condition, exposure to genetic counseling would impact decision making, and this population would report an interest in prenatal testing. Women with MFS were recruited via The Marfan Foundation to participate in a survey of open and closed-ended questions concentrated on age at diagnosis, family history of MFS, perception of illness, and reproductive options. Quantitative data was analyzed with descriptive statistics and the Cochran-Mantel-Haenszel method, and qualitative data was analyzed for themes supporting the quantitative data. Forty-six individuals participated. A large majority (98%) reported that MFS had an influence on their decisions to have children. Eighty six percent of participants reported that both the possibility of having a child with MFS and the risk of MFS-related pregnancy complications influenced their reproductive decision making. The perception that MFS has a negative effect on their lives approached a statistically significant correlation with the belief that MFS had an influence on the decision to have children (p=.059). Most participants (74%) reported that they would consider adoption but would not consider other family planning options. Common themes cited in qualitative data were concern about passing the condition to offspring (33%), individual health risks in pregnancy (23.8%), consideration of reproductive options (19%), deciding against having children (19%), and concern about parenting ability (7.1%). The findings demonstrate that MFS has complex and personal effects on reproductive decision making. Genetic counselors should recognize the importance of following up with patients approaching reproductive age to discuss reproductive options and concerns. There is a need for similar studies on other conditions with clinical overlap with MFS, factors impacting uptake of reproductive options, and ways genetic counselors can provide additional support to this patient population regarding reproductive decisions.
Alabama Genomic Health Initiative Community Engagement Outcomes Study Follow Up Interviews†
Population screening allows for identification of genetic contribution to disease risk which can lead to reduced morbidity and mortality with the implementation of screening and management recommendations. As the uptake of population screening expands it is important to assess the medical and psychosocial outcomes. The Alabama Genomic Health Initiative (AGHI) is a genomic research program. Individuals within this study had previously received an actionable result via genotyping through AGHI, completed an outcomes survey assessing participant motivations for testing, satisfaction with testing, and action taken based on result, and agreed to be recontacted for additional research.
This qualitative study assessed actions taken based on population screening results, understanding of results, whether participants shared results with healthcare providers and family members, emotional impact of results, and testing experience feedback. Twenty individuals were recontacted to complete semi-structured phone interviews. Analysis of interview data yielded 13 themes among four question categories: understanding of result, sharing result with healthcare providers and family members, emotional impact of result, and testing experience feedback. Themes for the understanding of result category included: time since receiving result, and occupation/prior knowledge. Themes for the sharing result with healthcare providers and family members category included: patient-provider relationship, value of information, and concern for wellbeing of others. With regard to emotional impact of results, participants felt expectation, surprise, relief, curiosity, and anxiety. Feedback regarding testing experience included the following themes: utility of information, desire for more information, and appreciation of information. Participant action based on results was assessed and determined as positive, neutral, negative, or undetermined based on lack of information. Ten (50%) of individuals took the appropriate action based on result. Of all participants interviewed, there were no negative or harmful actions taken based on result. These findings indicate population genomic screening is not harmful and may have positive outcomes on participants now and in the future, however further research is needed in order to assess clinical utility.
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The Role of Genetic Counseling Self-Efficacy in Variant Interpretation Discrepancies†
As the cost of genetic testing decreases, specifically whole exome and whole genome sequencing, the number of identified variants is increasing. Genetic Counselors play an important role in variant interpretation as they have access to a patient’s clinical information. However, not all genetic counselors engage in this process. This study explored self-efficacy as a potential barrier to variant interpretation. One-hundred three genetic counselors completed an online survey distributed through the National Society of Genetic Counseling assessing self-efficacy and variant interpretation practices. Five survey participants participated in a focus group to elaborate on survey findings. ANOVA analyses revealed no significant differences in self-efficacy and variant interpretation practices. Thematic Analysis of the focus group transcript revealed four themes: Clinical Judgement, Variant Interpretation Process, Variant Interpretation as part of the Genetic Counseling Scope, and Self-Efficacy. The focus group highlighted the desire for standardized process guidelines for variant interpretation.
Evaluation of Impacts and Outcomes of Pediatric Cancer Genetic Counseling and Testing†
Eight to ten percent of children with cancer are expected to have a genetic predisposition, although such predispositions are not well understood. The Cancer Predisposition Program (CPP) at St. Jude Children’s Research Hospital (SJCRH) is an ideal environment to assess outcomes of genetic testing and surveillance by eliminating cost, expanded panel testing availability, and ability for all oncology patients to receive genetic counseling. Demographics, cancer history, testing results, and surveillance outcomes were investigated in a cohort of SJCRH proband patients seen in the CPP August 2014-December 2018. Demographics, genetic testing results, and surveillance outcomes for family members who underwent cascade testing were examined. 80.3% of the 1,724 cohort proband patients, underwent genetic testing. The overall positive rate (pathogenic variant or clinically relevant result) was 30.38%. Most individuals had at least one family member undergo cascade testing. Proportionally, more VUS results were found when testing wasn’t limited based on patient tumor type. Of the 16 surveillance patients with tumors caught, 11 were stable at time of study, and the two who were deceased cause of death was unrelated to the tumors caught via surveillance. When looking at only traditional cancer predisposition proband testing (single gene, gene panel, and whole exome sequencing) and excluding over-represented RB1 testing, the positive rate was 15.84%. This positive rate result is higher than the 8-10% previously reported. The high VUS rates may be caused by expanded phenotype and is indication of importance of genetic counseling throughout the genetic testing process.
The Impact of Genetic Counseling on Patient Uptake and Satisfaction of Preimplantation Genetic Testing†Ω
This study aimed to explore how genetic counseling impacts whether patients pursue or do not pursue PGT and how these services impact their overall satisfaction with this healthcare decision. This is an international cross-sectional survey. The survey was posted to six Facebook support groups (see appendix) over a five-month period and members of the private pages were asked to complete a three-section survey exploring their experiences with their most recent cycle of IVF. Survey responses were compared between those who received genetic counseling services and those that did not with descriptive statistics, chi-squared, t tests, and ANOVA statistical analyses. Out of 51 participants who completed the survey, three-fourths (n=38, 74.5%) elected to proceed with PGT while one-fourth (n=13, 24.5%) chose not to pursue PGT. Out of the participants who chose to pursue PGT, 16 (42.1%) received genetic counseling services. Only two participants (15.4%) who chose not to pursue PGT received genetic counseling services. No significant difference was found when comparing participants overall satisfaction with their decision regarding the uptake of PGT between those who received genetic counseling and those that did not; on average, those who received genetic counseling had slightly higher scores on the Satisfaction with Decision (SWD) scale. Participants who chose to pursue PGT have different motives supporting their decision when compared to those who chose not to pursue PGT. Whether or not this population received genetic counseling did not significantly impact their decision regarding the uptake of PGT. While many participants feel they were able to make informed decisions surround the utilization of PGT, those who received genetic counseling had slightly higher average scores regarding the satisfaction with their decision.
Improving Access to Potential Genetic Counseling Students through High School Counselors†
As the field of genetic counseling continues to grow, so does the need for qualified applicants for genetic counseling training programs. A resource that is often utilized by high school students in career decision making is the student’s high school counselor. Prior to this research, no nationwide assessment of school counselor’s understanding of genetic counseling has taken place. This study used a survey distributed by the American Association of High School Counselors, and several state specific school counseling organizations, to assess the knowledge and comfort level that high school counselors have discussing genetic counseling, and to gain insight into their general career counseling practices. Forty-nine (49) survey responses were used in data analysis, the majority of which were female counselors working in public schools in Ohio and New York. Of participants, 14% had never heard of genetic counseling, and 53% had never discussed genetic counseling with a student. Health care careers with similar training levels and work environments, such as nursing, physician’s assistant, and medicine, were seen to be shared often or very often by the majority of participants. This study highlights the deficit in high school counselor knowledge of genetic counseling, and offers strategies from school counselors on the best ways to offer education on health care careers to their field.
Comparing Clinician-Parent Communication Patterns During Genome Sequencing Result Disclosures in a NICU Setting†
Clinical genome sequencing has recently emerged as an effective and feasible tool in the diagnosis of infants with suspected genetic disorders. SouthSeq is a clinical research project exploring a role for training non-genetics professionals to effectively disclose genome sequencing results within the context of neonatal intensive care. This mixed-method study aims to define the parent and provider communication behaviors that comprise the process of post-test genomic counseling in the neonatal setting and to uncover any differences in the pattern and content of communication between sessions led by genetic counselors and non-genetics professionals with the goal of informing theoretical counseling models and future training efforts. A focus on behaviors that facilitate patient engagement is applied in response to recent calls for reformed counseling models. Audio from 20 results disclosure sessions was recorded and transcribed. A content analysis approach was used to quantitatively characterize and compare session content for both provider types. Inductive coding was used to extract key qualitative themes. The analysis showed that clinician facilitative communication behaviors including partnership building and supportive communication correlated positively with parent participation in the disclosure sessions (R = 0.622, p < .005). Clinician facilitative communication did not vary significantly between genetic counselors and non-genetics neonatology providers. Clinician facilitative behaviors included asking question, checking for understanding and prior knowledge, affirming parent expressions of feelings, beliefs, and concerns, and normalizing potential parent feelings and concerns. Most parent participation was clinician prompted. Parents self-initiated participation mostly to clarify causes of symptoms and features, to clarify risks, to share prior experiences and knowledge from self-initiated research, and to confirm logistic details for participation in the research study. This study offers significant insight into how communication behaviors of clinicians and parents interact within the context of a genome sequencing results disclosure session. Future research is necessary to clarify the extent to which clinician engagement strategies and parent participation correlate with outcomes such as measurements of parent empowerment and satisfaction.
Assessment of Cancer Risk Understanding and Motivations for Research Participation in Individuals Receiving Negative Screening Results in the Healthy Oregon Project (HOP)†
Genetic screening programs for hereditary cancer predispositions require more knowledge about the experience of participants and influences on their participation to better prepare resources for participant support in the absence of traditional genetic counseling. The Healthy Oregon Project (HOP), one such program, utilizes an online application to consent, educate, and deliver negative screening results. HOP participants who received negative screening results were invited to complete a survey to assess comprehension of their residual cancer risk and explore their motivations for participating. This survey also inquired about their impression of the app-based protocol for HOP. Eighty-three (83) participants responded to the survey with the majority (n=71, 85.5%) having earned at least an undergraduate degree. Most (n=60, 72.3%) answered at least two of three questions about hypothetical residual risk correctly and predominantly (n=47, 56.6%) reported easily understanding their result report in the absence of genetic counseling. However, few individuals informed or planned to inform family members of their result and many described confusion about the translation of the result into their medical care. Subjects reported family history least impacted their decision to participate. Analyses presented a significant correlation between participant education and desire to contribute to research. Survey responses convey that individuals are more motivated to participate due to personal health and interests which may explain participant confusion in translating this result into their own medical health and understanding its impact on family members. Results from this research suggest the need for development and acquisition of post-screening supportive resources for participants to ensure appropriate understanding of the impact of their screening result and ethical conductance of this genetic screening.
A Case Study of Patients with Molecularly Confirmed Mosaic NF1
Neurofibromatosis type I (NF1) is an autosomal dominant neurocutaneous condition with phenotypic heterogeneity (OMIM: 162200). For around 5% of patients who meet the NIH clinical diagnostic criteria for NF1 a pathogenic variant cannot be identified. Biopsy of affected tissue—specifically neurofibromas (NFs) or café au lait spots (CALs)—has proven effective for identification of a variant not present or detectable in blood for mosaic individuals. Mosaicism presents a challenge in determining reproductive risk, which can range from a 1% to 50% chance of passing on the disease-causing variant in NF1 to any future child. Identification of NF1 variants in CALs or NFs allows for a targeted analysis in reproductive testing, which is a common objective of testing. Eight (8) individuals are reported with previously negative blood-based testing, a confirmed molecular diagnosis of mosaic NF1 from biopsy specimens, and clinical phenotypic information, including known reproductive outcomes for four (4) cases. Comparison of molecular results identified common first-hit mutation types (total gene deletion and protein truncation) in the included cases.
Patient Utilization of Telephonic Genetic Counseling Services†
Telephonic genetic counseling is a popular service delivery model proposed to meet the growing needs the public has for cancer genetic counseling. This study aimed to examine whether appointment and testing outcomes for patients referred to InformedDNA cancer genetic counseling by providers at Siteman Cancer Center differed between patients of different age, sex, race, community type, insurance status and diagnosis. This was a retrospective chart review using the electronic medical record to obtain demographics and a spreadsheet provided by InformedDNA to obtain appointment and testing outcomes for patients referred to telephonic genetic counseling. The study utilized chi-square analysis to compare populations and multinomial logistic regression to identify trends in appointment and testing outcomes following patient referral to telephonic genetic counseling services. Of the three-hundred and ninety-seven (397) patients studied, most were female, white, living in a metropolitan county, possessed commercial insurance, and the average age was 56.1. Appointment outcomes were significantly different based on sex and age. Testing outcomes for individuals deemed appropriate for genetic testing were significantly different based on race. There were significant trends in appointment and testing outcomes based on patient demographics. This study identified several differences and trends in appointment and testing outcomes, suggesting that telephonic genetic counseling might not be equally accessible or preferable to all populations. It is important to continue conducting research into the utility of alternative service models to ensure genetic counselors are providing the best care to the most patients possible.
Assessing Interest in Genetic Counseling for Patients with Immune Deficiencies
Primary Immunodeficiency Disorders, or PIDs, are a class of diseases affecting the inherent, genetically-determined immune system of an individual. Although consultation with a genetic counselor and genetic testing for PIDs is recommended, patient interest in and need for genetic counseling for immune conditions has not been well examined. This study aimed to assess the interest in genetic counseling among families affected by PIDs, and to examine several factors that may influence this desire or need for genetic counseling services. Invitations to an online survey were sent by mail to a list of patients curated by Invitae laboratory, UAB, and Children’s of Alabama. Twenty-six (26) people completed the online survey, which assessed the participant’s knowledge of genetics, understanding of their child’s genetic testing result, satisfaction with a genetic counselor if applicable, or interest in genetic counseling. In general, the interest in genetic counseling was reported as high by the participants who had never seen a counselor. However, ANOVA and Chi-Square analysis determined that there was not a significant association between participant interest or satisfaction with genetic counseling and their understanding of basic genetics and genetic test results. These results indicate that genetic counseling should be made available to patients who are interested in these services, but it may not be necessary for families to have a positive experience with genetic testing for PIDs.
Diverse Career Considerations of Potential Genetic Counseling Applicants†
Despite the immense growth in the field of genetic counseling and diversifying patient population in the past decade, membership diversity has remained stagnant with little heterogeneity. The purpose of this study is to better understand potential reasons for this discrepancy to improve recruitment strategies. This was accomplished by examining the career considerations of potential genetic counseling applicants and the possible relationship with demographic factors such as ethnicity, gender, or finances. An anonymous online survey was distributed among undergraduate students involved in organizations or groups with focuses in science, health professions, and psychology. This survey examined four main categories: demographics, previous knowledge of genetic counseling, considerations when choosing a career, and interests in pursuing a career in genetic counseling. Findings suggest that most students with these study interests are also interested in pursuing a career in genetic counseling after being provided with a description of the field, regardless of ethnicity or gender. Caucasians were the only ethnicity that was more likely to have heard of genetic counseling than to have an actual interest in pursuing it as a career. Many students have an interest in pursuing genetic counseling as a career despite minimal exposure through formal recruitment methods, with the most common introduction to genetic counseling being through word-of-mouth. This interest is highest in individuals of ethnic minorities, which further suggests barriers within the recruitment pipeline. Recruitment strategies should consider these findings by placing greater emphasis on informal promotion of the field, greater community involvement, and earlier introductions to the field.
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Evaluating the Application and Scope of the Genetic Counseling Intervention Reporting Standards (GCIRS)†
The Genetic Counseling Intervention Reporting Standards (GCIRS) were published in 2017 to satisfy the need for field-specific reporting guidelines, with the goal of promoting publication of high-quality research. We conducted a pre-post analysis comparing the reporting quality of research on genetic counseling before and after publication of the GCIRS with the aim of delineating areas for improvement in reporting practices and the GCIRS itself, as well as providing clarity to the types of studies to which the GCIRS can apply. Eligible studies published in the Journal of Genetic Counseling were divided into “Pre-GCIRS” (Jul 1, 2015-Dec 31, 2016) and “Post-GCIRS” (Jul 1, 2017-Dec 31, 2019) periods and scored for completeness of reporting using the GCIRS checklist. There was a 24.7% increase in overall reporting quality score between the two periods (42.4% Pre-GCIRS, 52.9% Post-GCIRS; p=0.03). GCIRS components that showed the greatest improvement related to counseling duration (p=0.02) and delivery mode (p=0.02).
These results demonstrate that, while the reporting quality of studies involving genetic counseling has increased since publication of the GCIRS, further improvement is needed. Authors who seek to publish studies on patient outcomes of genetic counseling are recommended to adhere to the GCIRS. Furthermore, future modifications to the GCIRS are suggested to increase ease of use and holistic portrayal of genetic counseling.
Genetic Counselor Perceptions and Opinions of Population Genetic Testing†
Increasing use of population-based genetic testing will have an impact on genetics professionals and the delivery of clinical genetic services. The purpose of our study was to gain the unique insight of genetic counselors’ understanding of the benefits and limitations of population-based genetic testing, as well as the educational and counseling needs of patients. Genetic counselors (n=174) completed an electronic survey on current experiences with population genetic testing as well as opinions for how population-based genetic testing would best be implemented. Respondents were asked what categories of genetic testing should be used for all patients versus patients with specific indications, as well as what categories of genetic testing should be ordered direct to consumer versus ordered by a healthcare provider. Factors that impact whether a test should be offered directly to a population were explored in more depth using qualitative questions.
Quantitative data was analyzed by The SAS System, and open-ended questions were thematically analyzed independently by authors. More genetic counselors reported counseling patients on results from population-based testing (50%) than report actually recommending the testing for their patients (36%). Thematic analyses revealed that medical actionability and “infotainment” were key factors in differentiating genetic information that should be available on a population level, as well as what information should be made available directly to a patient or consumer. Ultimately, 55% of genetic counselor respondents predicted that population-based genetic testing will become more common, and genetic counselors will shift to a posttest counseling-only model, when considering the landscape of testing in the next 5-10 years.
The Effect of an Educational Video on Knowledge and Intent in an OB/GYN Population†
Recent guidelines from the American College of Obstetrics and Gynecology (ACOG) recommend that expanded carrier screening (ECS), which screens for conditions regardless of a patient’s family history or ethnicity, should be offered to every female of reproductive age. The present study aimed to determine if implementation of an educational video in OB/GYN clinics would increase knowledge of ECS and promote informed decision making. Specifically, the study assessed if the video increased knowledge of ECS and impacted intent regarding ECS. Pregnant women (N = 30) were recruited in clinic or through a message sent through the electronic medical record system. Pre- and post-video surveys were utilized to explore participants’ knowledge and views on ECS.
Participants were found to have more correct answers the knowledge-based questions after watching the video (p<0.05). The percentage of participants desiring ECS increased from 53.6% pre-video to 67.9% post-video (p=0.05). The findings suggest that the educational video increased knowledge and influenced intent regarding ECS in this OB/GYN population.
Evaluating the diagnostic odyssey in the ultra-rare NGLY1-CDDG community†
With advancing technology, we are witnessing the emergence of a new category of rare disease. These so-called “ultra-rare” diseases, defined by a prevalence of less than 1 in 50,000 (4) are now recognizable and diagnosable due to advances in genomic testing, such as whole exome and whole genome sequencing (WES/WGS). We do not know how families with newly recognized ultra-rare diseases experience the diagnostic odyssey. The purpose of this study was to explore the experiences, barriers and facilitators of diagnosis, and perceived utility of diagnosis among families of individuals diagnosed with NGLY1-deficiency, a representative ultra-rare disease.
Survey questionnaires were assessed from 16 families representing 17 patients who received an email invitation to participate. Survey responses were evaluated through simple descriptive statistics with representative qualitative responses included in text when thematically distinct from available options. The majority (16/17) of patients were diagnosed through WES, though access to medical care, including WES, was identified as a key barrier to diagnosis. Only 9 of 16 patients reported an immediate impact on treatment, 15 of16 families found the diagnosis to be more helpful than hoped and identified awareness of disease prognosis and cessation of unnecessary testing and benefits. Only one family felt that medical professionals were able to effectively describe the disease at the time of diagnosis and lack of disease awareness was identified as a perceived barrier to diagnosis. Online patient advocacy groups were the primary source of information to which families turned for additional information.
Lost in Translation: Assessing Interpretation in Genetic Counseling Settings†
As the field of genetic counseling grows, so does the likelihood of encountering a patient with Limited English Proficiency (LEP), necessitating the use of an interpreter. Many strategies to assist genetic counselors in mitigating common issues with interpretation have been proposed; however, there is a lack of information and resources available for interpreters working in a genetic or genetic counseling session. We sought to assess interpreter familiarity with genetics terminology and available resources as well as willingness to participate in specialized genetic counseling interpretation training. A 50 item online survey was distributed via email and recruitment postings on discussion boards and social media sites. 146 total responses were analyzed using descriptive statistics, Chi-square, and Fisher’s exact tests.
Overall, 77% of participants scored well on the genetics terminology portion of the survey. Most participants were aware of at least one of the listed resources and identified Interpreter Education Online Webinars as the most helpful. Fifty- eight percent of participants stated that they had previously provided interpretation in a genetic or genetic counseling setting. Of those who had not interpreted in such a setting, 75% said they would be interested in doing so. Furthermore, a remarkable 97% of all respondents indicated that they would be interested in further training, selecting web-based training as the preferred mode. This study reiterates the need and desire for interpreter-focused education for these settings and creation of a continuing education tool is recommended.
A Qualitative Evaluation of Patient Experiences with the UAB Undiagnosed Diseases Program†
Rare diseases affect 1 in 10 Americans, so while individual diseases might be extremely uncommon, when considered as a group, rare diseases have a large impact. Previous studies have investigated experiences of patients prior to being seen or at the beginning of their evaluation by undiagnosed diseases programs. This study provides an in-depth, qualitative evaluation of patient and parent experiences after participation in a unique, fee for clinical service undiagnosed diseases program, allowing for reflection of current practice and patient/parent needs. Methods: Semi-structured interviews were conducted with patients and parents of patients seen by the Undiagnosed Diseases Program (UDP) at the University of Alabama at Birmingham (UAB). Analysis of the interviews was guided by a thematic approach. Results: A total of 11 interviews were completed with parents of pediatric patients (n=3) and adult patients (n=8). Four major themes emerged:
- Diagnostic Odyssey,
- Appreciation,
- Diagnostic Outcome, and
- Communication.
Participants underwent a diagnostic odyssey prior to being seen by the UDP and remained hopeful for a diagnosis. They appreciated the opportunity to be seen by the UDP. However, overall experiences differed based on whether evaluation by the UDP led to a diagnosis. Additionally, while participants were happy with initial communication, they indicated a desire for further follow-up after evaluation. Conclusion: Patients and parents of patients believe that participation in an undiagnosed diseases program is a desirable option for diagnosis. The findings of this study provide a general overview of patient experiences, and highlight strengths of the UAB UDP while also emphasizing areas to focus improvement in order to optimize the impact on patients and families. These findings may also be transferrable to other undiagnosed diseases programs or genetics clinics serving patients in the rare disease community.
Developing a Genetics Educational Intervention for Psychiatry Residents†
The role of genetics in psychiatry continues to be elucidated through the identification of risk-conferring alleles and syndromes that display psychiatric features. However, previous research has shown that psychiatrists do not feel competent to discuss the genetics of psychiatry with their patients. The goal of this study was to assess current psychiatry residents’ understanding of the genetics of mental illness before and after an educational intervention. Pre- and post-intervention surveys were administered to psychiatry residents to evaluate genetics knowledge, familiarity with genetic counseling, and practice patterns related to genetics.
Results indicate that participants feel it is their job to discuss topics of genetics with their patients, but do not feel prepared to do so, as evidenced by reported lack of training in genetics and low genetics knowledge scores. Additionally, residents report unfamiliarity with the field of genetic counseling and few had referred patients to genetics in the past year. Residents demonstrated improved genetics knowledge (p=.01), understanding of genetic counseling (p=.021), and identification of reasons for referral to genetics (p<.001) on the post-intervention survey. This research shows that a short educational intervention has the potential to improve psychiatry residents’ understanding of genetics.
Assessing Cutaneous Neurofibroma Related Intimacy Concerns in the Adult Neurofibromatosis Type I Population†
The purpose of this study is to determine if adults with NF1 experience cutaneous neurofibroma (cNF) related intimacy issues and if this is being addressed by healthcare providers (HCP). Methods: Patient and HCP surveys, adapted from the Dermatologic Intimacy Scale, were used to assess cNF-related intimacy concerns and the HCP experience. Free response questions were utilized in order to gain a deeper understanding of intimacy concerns.
Results: For the adult NF1 population, cNF burden was significantly associated with how often providers asked about intimacy concerns (p = 0.0082). HCP and NF1 patients both indicated that patients infrequently discuss intimacy concerns. However, patients indicated they feel anxious and isolated due to their cNFs. Many HCPs indicated they were uncomfortable with discussing intimacy concerns and would prefer to have support resources. The importance of having a supportive spouse, negative self-esteem due to their cNFs, fear of judgement and rejection, and worry about the progressing severity of cNFs were common themes in the adult NF1 population. For HCPs, lack of time and resources, and the need to discuss other features of NF1 were barriers in clinic. Conclusions: cNF-related intimacy concerns are present in the adult NF1 community and HCPs are not addressing these concerns. Overall, there is a need to discuss intimacy concerns in the NF1 community, although the exact role of providers has yet to be fully explored. The formation and utilization of support resources, whether that be written materials or patient support groups may be a good starting point.
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Creating an Inclusive Genetic Counseling Workforce: A Local Educational Initiative*†
Expanding and diversifying the genetic counseling workforce is essential in order to meet the growing needs of its changing patient population. However, lack of early awareness of the profession represents a significant barrier to recruitment of students, particularly underrepresented racial/ethnic minorities, into genetic counseling training programs. The purpose of this study was to increase knowledge of and interest in genetics and genetic counseling among high school students participating in a Summer Science Institute at the University of Alabama at Birmingham. Forty-three students were engaged in a 90-minute discussion- and activity-based lesson designed to promote understanding of genetics and genetic counseling principles and practice. Student knowledge and interests were measured prior to and following the lesson using surveys and pre-/post-tests. Students reported little to no prior familiarity with genetic counseling before the educational intervention.
Afterward, more than 90% of students reported an increase in knowledge and understanding of genetics and genetic counseling principles and practice. This self-assessment was further supported by a significant improvement in average pre-to-post-test scores. Just over half of participants reported that the educational intervention increased their interests in pursuing genetic counseling careers. These findings suggest that genetics and genetic counseling educational interventions can reduce a previously identified barrier to student recruitment and stimulate interest in genetic counseling careers. Ongoing efforts to expose underrepresented minority high school students to the profession could help to promote racial/ethnic minority student entry into genetic counseling programs and, ultimately, into the genetic counseling workforce.
Orphan Drug Development: The Process, Outcomes, and Future for the Treatment of Rare Diseases
Rare diseases individually affect a small portion of the population; however, collectively they affect around 8% of the United States population. Most of these diseases do not have a cure, and many have limited or no treatments available. Through the Orphan Drug Act of 1983, there are now incentives in place for those developing treatments for rare disease, such as tax breaks for companies and accelerated approval pathways. The path from research to Food and Drug Administration (FDA) approval for a drug is complex, with many barriers for both common and orphan drugs. Despite this, there are an increasing number of treatments available for rare disease. This paper summarizes the process of drug development, explores barriers, and reviews stakeholders and funding options for orphan drug development. It will provide examples of successful orphan drug development. This paper will also explore future directions of drug development, and the impact of new technologies on the landscape of orphan diseases. As science improves and we learn more about disease mechanism and treatment options, the number of therapies available to those affected by rare diseases will continue to grow.
Health Literacy Effects on Health-Related Needs of Pregnant Women and Their Caregivers †
Increased health literacy and fulfillment of informational needs are associated with improved health outcomes. The objective of this study was to further characterize the needs of pregnant women and their caregivers based on their level of health literacy, in order to better understand how to meet these needs.
This study re-examined data collected from a previous study at Vanderbilt University Medical Center. Pregnant women before 36 gestational weeks seen at Vanderbilt University Medical Center and their caregivers were enrolled. A mixed methodology, cross-sectional study was conducted by collecting information on needs, demographics, and health literacy scores from an interview, questionnaire, and Rapid Estimate of Adult Literacy in Medicine scale (REALM). Data was analysed using a previously validated need taxonomy, Wilcoxon Test and Pearson’s Test, Spearman P2 and redundancy tests, and logistic regression models.
Participants with adequate health literacy were more likely to have their needs met than those of limited or marginal health literacy (x2=4.08 adjusted p-value=0.043) and expressed more needs on average (11.3 v 7.7, p-value=0.04). Although no significant relationship was found between type of need and health literacy, some needs expressed by those with adequate health literacy were not expressed by those with limited or marginal health literacy.
Those with lower health literacy have fewer needs and are less likely to have their needs met. To address these needs, health professionals can ensure that information is provided to the level of the patient’s understanding and can provide a discussion of needs that may have not yet been anticipated.
Information and Support Resources for Whole Exome Sequencing
There has been a lot of research into whole exome sequencing (WES), as it is being increasingly used in clinic populations for complex disease. This study aimed to assess the resources used by patient families for support and information in the WES process. The participants were 26 parents (19% response rate) of pediatric patients from the University of Alabama at Birmingham whose children had undergone WES, and they were sent a retrospective survey about the resources they used. There survey responses were analyzed quantitatively, and free response answers looked for emerging themes. The most common information resource provided was a handout from a laboratory and 58% of participants did not seek further information. Most people did not receive support resources, but still felt supported in the process. Most participants utilized their ongoing support, like family or religion. Genetic counselors were a most utilized support based on availability and knowledge. Patient perception of support and information were strongly correlated (p<0.05) and believed to be markers that synchronize to create an overall positive experience. Genetic counselors should strive to create a dynamic of support and information during the WES process to better serve the patient experience.
Development, Implementation and Evaluation of a Whole Genome Sequencing Clinical Simulation
The increasing clinical implementation of Whole Genome Sequencing (WGS) brings us to the threshold of a genomics revolution, predicted to transform the medical model as it currently exists. In order to properly equip graduates with the skills that will be required of them upon entering workforce, genetic counseling (GC) training programs must address the unique challenges arising from the shift to the genomics era. Lack of access to experts in clinical applications of WGS, as well as a lack of available educational resources on the subject matter, have been cited by program directors as barriers to implementation of WGS-specific curriculum.
In order to address these barriers, a simulation case was developed under the guidance of experts in clinical WGS counseling, GC curriculum development, and simulation design. Learners completed pre- and post-simulation surveys. During the simulation, faculty observers evaluated learners for whether or not each demonstrated behaviors on a checklist specific to WGS results disclosure counseling. Immediately after the simulation, learners were given the same checklist to self-assess his/her performance before engaging in a debrief session with faculty observers.
On average, learners completed 81% of behaviors from the WGS counseling checklist, and each individual behavior was also demonstrated 81% of the time. Ultimately, learners tended to perceive the simulation as being highly realistic, found the resources to be helpful, and felt improved confidence in their abilities to perform WGS results disclosures. This simulation can be utilized in future GC training cohorts to meet the need for a highly impactful resource for WGS-specific curriculum. Replication of this educational tool in other programs, many of which may lack opportunities for exposure to clinical WGS and/or simulation development experts could provide a way to incorporate WGS-specific training into curriculum.
Evaluating a New Online Resource for Patients, Parents, and Caregivers Preparing for Pediatric Cancer Genetic Counseling
Patients and their parents often do not know what to expect or have unrealistic expectations when preparing for a genetic counseling appointment. Because of this, it can create challenges for the genetic counselor to accurately communicate the information that meets the patient’s needs, as well as incorporate psychosocial counseling. Furthermore, lack of clear expectations can cause difficulty coping with the genetic risks received because patients do not fully understand the purpose of the genetic counseling appointment. To attempt to better inform these individuals, a website for the Pediatric Cancer Genetics Clinic was recently created for patients and parents to utilize prior to their session. The purpose of this study was to assess patient, parent, and caregivers’ perceptions of the online resource so the website can be modified to best meet their needs. Moreover, the study also investigated differences in sociodemographic characteristics and habits of online use between website users versus non-users. The results indicated that there were no statistically significant differences between these two groups. Our results show the online resource can be utilized by a wide population and that factors studied do not contribute to the likelihood of individuals utilizing the website. Based on this data and parent suggestions, the website will be modified to include a web page written specifically for pediatric patients, contact information on the home page, and reconfiguring the website layout for easier navigation. Additional investigation is still needed on alternative interventions to best prepare patients prior to genetic counseling appointments.
The Effect of Genetic Counseling Mandates on Patient Choice to Pursue Appropriate Genetic Testing: A General Population Survey §
There is increasing availability of and interest in germline testing for hereditary cancer syndromes. Lynch syndrome is a hereditary cancer syndrome associated with an increased lifetime risk of colon cancer, uterine cancer, and other neoplasms. Knowledge of a germline genetic mutation associated with Lynch syndrome impacts cancer surveillance and treatment and should therefore be accessible to any patient who meets testing guidelines. There are many risks, benefits, costs, and other considerations associated with genetic testing, and improperly ordered, interpreted, or managed genetic testing can have a significant psychosocial and medical impact on patients and countless wasted healthcare dollars. Some health insurance payers have implemented a “genetic counseling mandate” policy requiring affirmation of the appropriateness of germline testing by a genetic counselor or similarly qualified provider prior to coverage of the cost of the testing. It is not clear whether genetic counseling mandate policies achieve their stated goal of eliminating inappropriately ordered germline genetic testing. The purpose of the present study is to investigate characteristics predictive of the likelihood to undergo clinically appropriate genetic testing for Lynch syndrome and the choice to include genetic counseling as part of the genetic testing process under the condition of a genetic counseling mandate.
Coverage by a private health insurance payer was associated with a significantly increased likelihood of undergoing clinically indicated genetic testing for Lynch syndrome. Delay of medical care due to cost was associated with a decreased likelihood to undergo genetic testing, with or without genetic counseling. Coverage by a high-deductible health insurance plan and delay of medical care due to cost were found to be predictive of a decreased likelihood to undergo genetic counseling as part of the genetic testing process. However, previous knowledge of genetic counseling predicted an increased likelihood to pursue genetic counseling. Finally, increasing wait time to an appointment with a genetic counselor is associated with decreasing likelihood to choose genetic counseling under a mandate policy.
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Performance of the Alabama State Newborn Screening Protocol for Cystic Fibrosis in Racial and Ethnic Minority Populations*†Ω
Newborn screening for cystic fibrosis (CF) is universal in the United States, yet each state establishes its own protocol to maximize sensitivity in a given population. While several states have published data demonstrating reduced efficacy of CF newborn screening among racial and ethnic minorities, none of these states have a population similar in size and composition to Alabama. Therefore, the purpose of the present study is to evaluate the performance of the Alabama newborn screening protocol for cystic fibrosis among racial and ethnic populations in the state.
Data from patients referred to the Children’s of Alabama cystic fibrosis center following positive newborn screening were collected and analyzed via retrospective chart review for the first 7 years of the program (January 1st, 2008 to December 31st, 2015). African American newborns with cystic fibrosis were statistically more likely to have 1 or more CFTR variants not identified by newborn screening when compared to the Caucasian reference group. Additionally, African American newborns with CF were approximately 18 times more likely to be missed by newborn screening (OR 18.5, 95% CI: 1.8-191.2). Such discrepancies in newborn screening detection may serve to further cystic fibrosis related health disparities among racial and ethnic minority individuals. Further research is needed to better characterize CFTR variant spectrums in racial and ethnic minorities in order to more effectively screen these populations for cystic fibrosis. Health care providers need to be aware of such discrepancies in their evaluation of newborns with clinical signs and symptoms of CF, but with negative newborn screening.
Evaluation of Service Learning: A Genetic Counseling Course Experience*†
Service learning (SL) combines the goals of service and learning where they are equally valued and enriched by the other. Benefits of SL include development of a student’s social responsibility, leadership skills, multicultural awareness, communication skills, and dedication to community outreach. The effects of SL as a form of disability training are largely unstudied. The primary purpose of this study was to measure changes in attitudes towards community service and attitudes towards individuals with intellectual disability (ID) by surveying past and present genetic counseling students of the University of Alabama at Birmingham’s training program who did or did not participate in the newly established SL course.
The secondary purpose was to determine if they viewed SL as an effective way of meeting the goals set by the Accreditation Council for Genetic Counseling’s (ACGC) Practice-Based Competencies. In our findings, SL recipients demonstrated a more favorable outlook on the effects of community service and had more positive attitudes towards individuals with disabilities than those who had not experienced SL. Current students also exhibited positive changes in these same measures between pretest and posttest surveys. SL recipients agreed that SL met the standards set by ACGC. Additionally, they rated their experience as excellent and would recommend SL to future students. Recommendations to consider for a SL course were also provided. This research can be used to assess the usefulness of SL as an option for disability training in genetic counseling training programs and to help programs establish their own SL course.
The Duty to Warn At-Risk Relatives—the Experience of Genetic Counselors and Medical Geneticists*†#
Most genetic counselors and medical geneticists will experience patient refusal to warn an at-risk relative. When faced with such a situation, conflicting laws, professional guidelines, and ethical obligations may lead to confusion regarding whether a clinician has a duty to warn their patients’ relatives of genetic risk. Dugan, et al (2003) and Falk, et al (2003) surveyed genetic counselors and medical geneticists, respectively, to examine their clinical experiences with the conflict of duty to warn versus patient confidentiality.
This issue has become increasingly relevant as the actionability and breadth of genetic test results has arguably increased since 2003, and pertinent federal laws have been implemented which did not exist at the time of the publications. Using a merged version of the surveys designed by Dugan and Falk, the current study sought to understand if interim changes in the field of medical genetics have led to shifts in how clinicians are experiencing, and therefore reacting to, patient refusal to inform at-risk relatives. Compared to the majority of clinicians surveyed by Dugan and Falk, only one-third of medical geneticists and genetic counselors believed they had a duty to warn their patients’ relatives of genetic risk. In addition, only 8% (21/259) of participants believed current guidelines effectively address the issue of duty to warn. Similar to the results of Dugan and Falk, the majority of medical geneticists (59% 30/51) and almost half of genetic counselors (46%, 95/206) experienced patient refusal. Yet awareness of federal or state laws which regulate the disclosure of genetic information to at-risk relatives remains surprisingly low. These results suggest that because the conflict of duty to warn remains a common experience among genetics professionals, educational resources are needed to facilitate informed decision making. Furthermore, participants’ opinions of current policies and clinical decisions may guide future policies and professional positions.
An Analysis of State Newborn Screening and Parental Emotional Distress*§
Newborn screening (NBS) is a public health initiative that involves the screening of all newborns for a range of medical conditions. If left untreated, these conditions can cause long-term medical complications. NBS has evolved over more than forty years to become one of the largest genetic screening programs in the United States. This study involved collection of data from medical records of healthy, full term newborns who received false positive newborn screening results in the state of Alabama between January 1st 2015 and November 15th 2016. To assess the distress of parents receiving false positive results, data collection was followed by semi-structured interviews. Interviews were transcribed and coded, revealing several themes. The results of this study support that parents are unaware of the testing occurring and are equally uninformed about the possibility of false positive results.
Similarly, many parents report still feeling uninformed about NBS even after having experienced it. In keeping with previous studies, it was found that false positive NBS results lead to undue emotional distress. Although the amount of emotional distress varied, all parents interviewed expressed some level of distress. This study is the first of its kind to assess the emotional effect on parents of the NBS program in the state of Alabama and provides support for more of an educational and supportive role by obstetricians, pediatricians and genetic counselors. The study results emphasize the notion that there is a great need for evaluation of state NBS programs to educate and support parents through the NBS process.
Assessing Reproductive Risks for Recessive Conditions that Arise from Cancer Panel Testing*§
Several genes on cancer panels are not only associated with cancer predisposition but also with carrier status for recessive conditions. Other than the National Comprehensive Cancer Network’s broad recommendation for genetic counseling on these risks, there are no practice guidelines specifying how, when, or who should be having these discussions. Mets et al. (2016) assessed this by surveying cancer genetic counselors and found inconsistencies in practice.
This study aimed to further examine differences in attitudes and practices among genetic counselors, medical geneticists, and clinical oncologists regarding the best method of communicating these risks to patients. An anonymous electronic survey consisting of 37 items was sent to members of the National Society of Genetic Counselors, the American College of Medical Genetics and Genomics, and the American Society of Clinical Oncology. A majority of respondents had discussed reproductive risks with at least one patient before, generally supported discussion of these risks, and would support a practice guideline on this topic. A majority believed that laboratories should include risk information on both consent forms and results reports for cancer panels, however a survey of labs found that this information is not consistently included. Although the majority selected “genetic counselor” when asked which provider would ideally have responsibility to have these discussions, a majority of genetic counselors selected this choice but just over half of oncologists and exactly half of medical geneticists agreed (p=0.0016). There was a significant difference on whether pre-test or post-test is the best time to address risks, with most physicians choosing pre-test and most genetic counselors choosing post-test (p=0.0008). Attitudes captured here can inform practitioners’ potential considerations when ordering cancer panels or giving results of these tests. These results can potentially be used in the development of a more detailed practice guideline for providers involved in the genetic counseling of patients undergoing cancer panel testing.
Next-generation Sequencing Experience: Impact of Early Diagnosis of Usher Syndrome*†#
Usher syndrome (USH) is a genetic disorder characterized by congenital severe to profound hearing loss and vision loss (due to Retinitis Pigmentosa). The onset of vision loss varies between late childhood and adolescence. Historically, Usher syndrome has been diagnosed via onset of vision loss. Since 2011, genetic testing via NextGeneration sequencing panels, which include genes associated with hearing loss, have led to diagnosis of USH earlier in a child’s life. Genetic testing methods are essentially leading to diagnosis of USH before onset of vision loss. Few studies have assessed the psychosocial implications of a diagnosis of USH for affected individuals. Furthermore, there is a significant gap in the literature on the psychosocial implications to parents of children with USH.
Additionally, there have been no studies to date exploring the impact that diagnosing USH before vision loss onset has on affected individuals or their parents. The aim of this study was to assess the parental psychosocial implications, such as emotions and coping, of earlier diagnosis of USH via genetic testing compared to parents of children who were diagnosed later. Thirty-six participants were recruited through an online posting on the Usher Syndrome Coalition website. Two comparison groups were formed based on the method of diagnosis (i.e. genetic diagnosis vs. ophthalmologic diagnosis). Semi-structured interviews were recorded and transcribed. Comparison, using thematic and statistical analysis, of psychosocial impact on parents of children diagnosed early (genetic testing) and later (ophthalmologic findings) was completed. There were no statistically significant differences in emotions between the two groups of participants, suggesting that earlier diagnosis via genetic testing does not lead to increased anxiety or psychosocial issues for parents. Earlier diagnosis allows parents to process and prepare the child for independence throughout life. Additional themes identified from parent interviews and their application to patient care are described.
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Rett Syndrome: A Learning Module*
Rett syndrome (RTT) is an X-linked dominant neurodevelopmental genetic condition characterized by regression of developmental milestones, growth abnormalities, partial or complete loss of hand use communication, gait difficulties, and hand stereotypies. RTT occurs in approximately 1/10,000 live births. An early diagnosis can improve quality of life; however, the average age of diagnosis is 4 years. A learning module describing the features and clinical diagnostic criteria of RTT was developed and distributed to pediatric residents. A pre and post-survey was used to determine if the learning module increased residents’ familiarity with RTT. Learning increased for all users despite their year in residency or previous experience with RTT. All participants improved their awareness of RTT features between the pre- and post-survey (p-value 0.0392). Females’ scores improved more than males (p-value 0.0009). This learning module has proven to be an effective tool and hopefully will enable users to make a timely diagnosis in their future practice.
Oncologists’ Awareness, Understanding and Usage of Germline NGS-based Multigene Panel Tests for Heritable Cancer Syndromes in Patients and Their Families*†
Germline NGS based multigene panels that test for hereditary cancer susceptibility are a newer technology that present challenges. Previous surveys of genetic counselors and other healthcare professionals including physicians (not stated to be oncologists) indicated that clinical experience with these tests was limited, and that greater education was necessary on these tests. Experiences or opinions of oncologists with germline NGS based multigene panel tests have not been reported. We conducted a survey of medical oncologists’ to assess their awareness, understanding, and usage of multigene tests.The survey was distributed via email to members of the American Society of Clinical Oncology. Our data suggest that those in practice for a longer duration were more comfortable with ordering NGS-based multigene panel tests and considered them more useful. Our hypothesis was validated in that medical oncologists are generally not prepared to interpret results and counsel patients or family members based on germline NGS-based multigene panel tests. The majority of oncologists (50.7%) were not comfortable making cancer surveillance recommendations for family members of patients when test results were inconclusive. Only 18.8% of participants referred patients for pre and post-test genetic counseling, although approximately two-thirds of participants agreed that patients undergoing testing should have pre-test and post-test counseling. These results suggest a need for better education on NGS-based multigene panel tests, and better access to genetic counseling services.
Do Demographics Influence Parental Interest and Support for Whole Genome Sequencing in the Healthy Newborn Period?*†
Whole genome sequencing (WGS) is a clinical technology that has gained scientific interest and public attention for its ability to reveal an individual’s complete genetic profile. Historically, it has been used as a clinical last resort testing strategy, however some predict the eventual replacement of traditional newborn screening with WGS. Information regarding parental interest in the potential use of WGS in the healthy newborn population is limited. The purpose of this study is to analyze parental interest in use of this technology for offspring in an under represented population and identify demographic factors that might influence parental interest. An educational brochure and paper-based survey were distributed in two high-risk prenatal care clinics in Alabama. Overall interest in WGS, as well as evaluation of the types of health conditions parents would want information on were assessed. Demographic factors were collected and demographic drivers of interest, including socioeconomic status (SES), were analyzed. Of 66 participants, more than 70% of participants were of lower SES. Despite this, overall parental interest in WGS for their healthy newborn was high, with 86.4% of participants either being “somewhat interested” or “very interested”. No statistically significant differences in interest by SES or any other demographic factor were identified. Furthermore, there was no difference in the amount parents would be willing to pay for this technology. Our findings suggest that future participation in WGS for healthy newborns would be high. Furthermore, our findings provide evidence to support that interest is high despite low socioeconomic status, which is contrary to the long-held belief that interest in genetic testing is lower in minorities.
Factors That Influence the Completion of Predictive Testing for Huntington Disease*§†
Huntington disease (HD) is an inherited, adult-onset neurodegenerative condition. Predictive testing for HD is available to identify at-risk individuals that will develop symptoms. Protocols are in place for this testing to assess patient readiness and reduce patient distress. This protocol includes genetic counseling, psychological evaluation, and neurological evaluation. In December 2013, UAB revised the testing protocol to involve less on-site appointments. A chart review and patient survey were used to evaluate completion rates of predictive testing for HD at UAB before and after the protocol change, as well factors that influence testing completion (distance from Birmingham, motivation for testing, etc.). The hypotheses were that the completion rate would be higher in those who initiated testing after December 2013, those who live closer to Birmingham, and those who underwent testing for family planning. The trend was that more people completed the testing before the protocol change, and a higher percentage of those who live >150 miles from Birmingham completed testing. However, there was no significant difference in completion rates based on any of the factors observed. Larger studies are needed to determine the best protocol for predictive testing for HD. Included in this manuscript is a sample data collection form that could be used at other sites to further clarify factors that influence the completion rates.
Incorporation of a Genetics-based Information Module Into Standardized Diabetes Patient Education*§†#
The current prevalence of diabetes is a significant public health issue, and multidisciplinary prevention efforts are warranted. Genetics risk assessment and education is a newly investigated approach to increase understanding of diabetes etiology and inspire behavior modification. This study investigated the effectiveness of an educational module created to improve understanding about the genetics of diabetes. Participants completed a pre-test survey to assess three domains: 1) knowledge about diabetes etiology and genetic testing, 2) motivation to adopt healthy lifestyle behaviors, and 3) interest in genetic testing for diabetes. Participants viewed an educational module, and then completed a post-test survey to re-assess the domains. Participants increased knowledge about the genetics of diabetes (p<0.0001) and testing (p=0.0184), demonstrated motivation to adopt healthy behaviors (p<0.0001), and decreased interest in genetic testing (p=0.0522) after viewing the educational module. The results suggest that the educational module was effective in increasing understanding of diabetes and increasing motivation to adopt healthy behaviors. As the complex interaction of genetics and the environment is further elucidated, genetics professionals will likely play a larger role in risk assessment, genetic counseling, and diabetes education with the goal of facilitating a translational approach to diabetes research, prevention, and management.
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Clinical and Pathologic Comparison of Sporadic and Familial Renal Cell Carcinoma*§
Renal cell carcinoma (RCC) is the 8th leading cause of cancer and 3% of affected individuals also have a positive family history. In an attempt to identify familial and sporadic cases of RCC, Mayo Clinic’s renal mass registry was queried. Patients with a clinical diagnosis of a syndromic cause of RCC were excluded and familial cases were sequenced to confirm the lack of mutations in syndromic RCC genes. The resulting frequency of nonsyndromic familial RCC in this population was 3.5%.
To determine whether familial cases could be differentiated from sporadic RCC cases, the demographic, clinical, and pathologic features were examined. Comparison of these characteristics failed to exhibit significant differences between groups. This finding may be a consequence of small sample size or shared risk factors among relatives with RCC.
Implementing Service Learning In Genetic Counseling Training
Service learning (SL) has been shown to have a positive impact on students’ personal outcomes, academic learning, career development, and community relationships. Information regarding the integration of SL into genetic counseling training programs is limited.
This study aims to assess the prevalence of SL in genetic counseling training programs as well as program directors’ attitudes towards SL. Approximately 35% of genetic counseling programs that responded to an online survey have SL as part of their curriculum, and 76% consider SL to be very or somewhat important in genetic counseling training.
This data will be used to confirm the relevance of and interest in SL and provide guidance for integrating SL in genetic counseling training curricula.
Planning, Implementation, and Evaluation of a New Clinical Simulation: Psychiatric Disease Case*†
Psychiatric illness is common and has a complex genetic and environmental etiology. Despite the fact that genetic counseling can benefit individuals and family members affected by psychiatric illness, genetic counselors often feel unprepared or unqualified to address these conditions. Therefore, a clinical simulation was created, implemented, and evaluated. The scenario required genetic counseling students to address disease etiology and recurrence risk for a standardized patient with bipolar disorder.
Evaluations were completed before and after the simulation. Post-simulation comfort level increased an average of 65.9% for all participants. Averaged scores on content knowledge reflected no improvement. Overall, experiencing a simulation addressing psychiatric illness increased the comfort level of participants, thereby encouraging them to engage with an underserved population.
Parental Perspectives of ArrayCGH Educational Tool*†§
Array comparative genomic hybridization (arrayCGH) is an advanced genetic test that can uncover many results. However, healthcare providers commonly hesitate to address all possible results with parents before testing children due to the sensitive nature of some potential results. An educational pamphlet describing arrayCGH and a survey were created and distributed to parents of children who had arrayCGH. Parental knowledge and opinions about their experience with arrayCGH were evaluated.
Results demonstrate parents want pre-test knowledge of all potential results and felt prepared for all results by the pamphlet. Overall, the pamphlet appeared to increase parental understanding of arrayCGH.
Taking on Life After Cancer: Assessing the Impact of a Childhood Cancer Survivorship Clinic
Limited information is available regarding the effect of cancer survivorship clinics on survivors’ understanding and perception of their cancer experience.
This study examined the impact of attendance at a survivorship clinic on patient knowledge of diagnosis, treatment, and late effects, as well as patient opinions regarding information provided, severity of treatment, and support resources. Pre-clinic and post-clinic surveys were completed. While no statistically significant changes to patient knowledge or opinions were reported given the small sample size (n=8), insight to patients’ specific understanding and opinions of their cancer diagnosis, treatment, and potential for late effects was provided. These results offer valuable insights regarding the goals of this specific clinic from its teenage clients.
Psychosocial Factors Affecting Uptake of Preimplantation Genetic Diagnosis and/or Screening
Preimplantation genetic diagnosis and screening (PGD/S) are procedures used with in vitro fertilization to test embryos in certain high-risk families before they are implanted. Psychosocial factors such as religious beliefs and previous experience with an affected family member have been shown to alter perceptions of this testing option; however, whether these perceptions affect uptake of PGD/S is unknown.
The present study surveyed patients considering PGD/S to determine whether significant differences exist among psychosocial factors between those choosing for and against pursuing this testing. Religious beliefs, previous experience with an affected family member, and the desire to achieve pregnancy are shown to influence the decision-making process in certain individuals. This knowledge may assist healthcare providers in facilitating decision-making regarding these procedures.
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The Implementation and Evaluation of a New Undiagnosed Diseases Program at the University of Alabama at Birmingham*
One can imagine that having an illness whose name is eluding physicians can be frustrating. The Undiagnosed Diseases Program (UDP) at the University of Alabama at Birmingham (UAB) was established to provide support to those undiagnosed and to aid in the discovery of new diseases. A survey was created to collect patient and caregiver feedback regarding satisfaction with the application and evaluation process. Feedback was also solicited about their experience of living without a diagnosis and the impact it has had on their lives. The results indicate that respondents were not involved in the UDP application, they were satisfied with their evaluation, and there are unmet needs in this population, which may help inform the development of future programs.
The Implementation of a Multidisciplinary Care Clinic for Von Hippel-Lindau Disease (VHL) at the University of Alabama at Birmingham (UAB)*†
Von Hippel-Lindau disease (VHL) is a tumor susceptibility syndrome characterized by hemangioblastomas, pheochromocytomas, endolymphatic sac tumors, and an increased risk of developing renal cell carcinoma and pancreatic cysts. Based on a review of the literature, we expect that multidisciplinary care will enable more thorough screening for tumors, more timely and appropriate interventions, the identification of at-risk family members, and comprehensive, coordinated care. Here we describe the process of becoming a VHL Clinical Care Center through the VHL Alliance, the approach used to identify specialists for our clinic, and our model for providing care. Our experience may help inform other providers who are looking to establish or improve a similar multidisciplinary clinic, which could be applied to management of various diseases.
Implementation of Crisis Intervention Training in Genetic Counseling Training Programs*§†
Crises in medical settings disrupt coping skills and can lead to depression and even suicide. Genetic counselors, healthcare providers who communicate genetic risk information and provide support, may encounter patients in crisis. The Accreditation Council for Genetic Counseling (ACGC) requires crisis intervention training (CIT) in genetic counseling training programs. However, many programs lack a dedicated CIT curriculum, and content for this training is not specified by guidelines. This study surveyed practicing genetic counselors to inform curricula for CIT in training programs. Over 88% of respondents agreed with the ACGC and supported the addition of dedicated CIT (79% had not received this as part of their training). The most desired format was an in-person class or included in clinical rotations, and the preferred content included how to recognize individuals in crisis or at suicide risk, how to calm or diffuse a patient in crisis, how to develop a suicide safety plan, and how to navigate the referral network within an institution. The majority of participants felt genetic counseling patients were not being adequately referred for mental health counseling. The reported use of CIT skills varied by discipline, with prenatal and laboratory counselors reporting the most frequent use of these skills. These findings may impact program curricula and counseling referrals.
Assessing Speech and Language Outcomes in Children with Cochlear Implants and GJB2 Mutations*§
GJB2 mutations account for about half of all autosomal recessive, nonsyndromic hearing loss (NSHL). The literature is inconclusive in regards to speech and language (SL) outcomes for this population after cochlear implantation. The goal of this study is to correlate GJB2–related NSHL with SL outcomes in our cochlear implant (CI) population. We reviewed records on children with NSHL who received a new CI at Children’s of Alabama before age four years and whose GJB2 status is known. We found that those with GJB2-related HL do show better SL outcomes after cochlear implantation compared to individuals with non-GJB2-related HL. Overall, GJB2-status does impact SL outcomes, although more research is also needed to define the magnitude and impact of other factors, including parental noncompliance.
Finding a Balance in Prenatal Diagnosis: Decision Making, Social Support and Privacy in Prenatal Diagnosis*
The ability to diagnose genetic conditions prenatally has revolutionized reproductive options for couples at risk of having children with genetic conditions. There are many differences among these options; therefore, many personal factors may affect a couple’s decision or preferences regarding prenatal diagnosis. By assessing at-risk couple’s opinions on different testing options, this study found that many factors that play a role in decision making and these factors differ between prenatal testing methods. Additionally, social support and privacy are not unmet needs, however, they are valued when undergoing prenatal diagnosis. These results highlight the importance of informed involvement of health care providers in the decision making process for prenatal testing.
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Neurofibromatosis Type 1 Patient User Manual*
Neurofibromatosis type 1 (NF1) is an autosomal dominant genetic disorder affecting 1 in 3000 individuals. NF1 manifests with tumor growth in the tissues surrounding nerves. High quality patient education materials can play an effective role in the self-management of a chronic condition. This is especially important for patients who are seeing multiple specialists and sometimes needs to serve as their own advocate for their rare condition. While there are already patient education materials on NF1, there is not one comprehensive product available that is written in patient-friendly language. Our goal was to create a comprehensive, patient-friendly ‘user manual’ for NF1 specific for the patients seen at the University of Alabama at Birmingham Neurofibromatosis Clinic. People who have been affected by NF1 took part in a discussion allowing input from the target audience to be incorporated into the production of the user manual. Data gathered from the discussion was grouped into themes, which was integrated into the manual. The user manual will be made available to patients with NF1 at the UAB NF clinic, and may serve as a template for other clinics.
Contribution of Family History on the Incidence of Spina Bifida*§†
Spina bifida affects 1,500 newborns in the United States each year. The impact of family history on incidence of spina bifida has not been documented since before 1998 – when manufacturers began fortifying wheat products with folic acid. This study evaluates the current impact of family history on incidence of spina bifida, documents maternal exposures, and assesses how many parents have discussed genetics and spina bifida with a healthcare professional. It is hypothesized that there will be an equal contribution of maternal and paternal family history, that exposures will be similar to previous reports, and that parents of younger children will be more likely to have discussed genetics with a healthcare professional. This study recruited members of the Spina Bifida Association of Alabama and parents attending the Spina Bifida Clinic at Children’s of Alabama. From September to December of 2012, 41.2% of recruited parents completed the online survey. Overall, 27.3% of families with one child affected with spina bifida had a positive family history of neural tube defects, with more paternal than maternal history reported. Sixty percent of families had discussed genetics and spina bifida with a healthcare professional. Mothers taking folic acid in the first trimester and anytime after conception were more likely to have a younger child with spina bifida. This study found a higher incidence of family history, particularly paternal family history, than what has previously been reported and is the first of its kind to document frequency of discussions of genetics and spina bifida with a healthcare professional.
Patient Experience with Exome Sequencing*†
Dupuytren’s disease is a rare, progressive disorder that affects the growth and proliferation of fibroblast cells and results in the shortening and thickening of the connective tissue in the hands and feet. While cases of familial Dupuytren’s disease (which seems to follow autosomal dominant inheritance) exist, no single causative gene has been discovered. Exome sequencing is a relatively new test that is currently being used to identify novel genes that are responsible for diseases like Dupuytren’s disease. To date, few studies have been published regarding patients’ experiences with exome sequencing. It is anticipated that their experiences being involved in this type of testing may be unique due to the volume of data generated from the test and the potential for incidental findings. To further investigate this, fourteen individuals from a single family with Dupuytren’s disease were enrolled in an exome sequencing project to identify a causative gene. All participants were interviewed about their experience with exome sequencing. This project included two phases: audio recording of the initial consent process and of a follow-up phone interview. The purpose of this project was to qualitatively analyze the patients’ experiences with exome sequencing to enlighten future exome sequencing studies. It was hypothesized that the participants would be frustrated by the length of the informed consent session, concerned about the potential for incidental findings, and worried about issues related to the privacy of their genetic information. During the informed consent process, some patients did confirm concerns about incidental findings and genetic privacy. Additional unexpected themes also emerged.
After the phone interview, patients’ opinions about the length of the process were mixed. Despite not identifying a causative gene for Dupuytren’s disease, participants were very pleased with their participation in the research project and described various motivations for their participation. It is our hope that information gained from these participants’ experiences will be valuable for other potential participants, researchers, and medical professionals as they design their research studies and informed consent documents.
How to Develop an Educational Tool on Hereditary Breast Cancer for Minorities*§
Women with hereditary breast cancer have a lifetime risk of up to 87% to develop breast cancer. Education is essential for women to be aware of the risk factors and appropriate screening guidelines for hereditary breast cancer. However, traditional forms of education fail to resonate with the African American community.
This study aimed to discover an effective educational strategy to disseminate hereditary breast cancer information to the African American community. Two separate focus groups were conducted with organizations that have prior experience in health education amongst the African American population. One group completed a survey about effective ways to educate the African American community. The focus groups and surveys were analyzed and categorized to reveal frequent recommendations or themes. Participants stated that hereditary breast cancer education is lacking in the African American community. Recommendations for effective education included using personal interactions and interactive activities. Education conducted through a source that is trusted and established in the community was another theme. Partnering with current educational programs was a common suggestion for the purpose of integrating hereditary breast cancer information into current program agendas. Importance was also placed on formulating a simple, clear message that could be adapted to existing forms of breast cancer education for minorities. In order to effectively disseminate hereditary breast cancer information to the African American community, educators should use a personal, interactive approach that conveys a simple message through established community groups and programs. Effective education dissemination has the potential to increase hereditary breast cancer detection in the African American community, which could lead to earlier detection and prevention of cancer.
Metabolic Computer-Based Tutorial for Healthcare Professionals*
Inherited metabolic diseases are individually rare, but together represent a common class of disorders. They have life-threatening consequences if not diagnosed and treated in a timely manner. Newborn screening is a public health initiative aimed at identifying newborns with inherited metabolic disease early in life; however, symptoms can still present before these results are available. Educating healthcare professionals about metabolic conditions can help prevent sequelae from mismanaged or misdiagnosed events. Medical continuing education can be challenging due to hectic schedules and long hours. Computer and web-based methods are helpful as users can learn in any setting and at any pace. A computer-based tutorial was created for healthcare professionals to learn about the presentation, testing, diagnosis, treatment, and management of individuals with metabolic disease and included 10 case presentations. A pre and post tutorial quiz to assess knowledge was completed by 11 individuals, first and second year genetic counseling students. First year students demonstrated a change from pre to post tutorial scores of 1.7 points. Second year students demonstrated a change of 1.3 points. These differences between pre and post tutorial scores for both classes were statistically significant (p=0.013). The average post score was higher than the pre score for both groups. Additional changes can be made to improve the tutorial including expansion of cases and involving more participants from varied healthcare backgrounds. A computer-based tutorial can increase knowledge of inherited metabolic conditions for healthcare professionals. In the future, this tutorial could be used for continuing education in multiple groups.
Vitamin D Receptor Polymorphisms and Non-Melanoma Skin Cancer Risks in an Alabama Population*
The American Cancer Society’s (2012) most recent statistics for non-melanoma skin cancer estimates 3.5 million cases. Gene changes may make an individual more susceptible to isolated non-melanoma skin cancer [which includes basal cell carcinoma (BCC) and squamous cell carcinoma (SCC)]. One of those genes is the vitamin D receptor (VDR). Polymorphisms in the VDR genes are thought to contribute to the level of protection an individual may have against certain types of skin cancer (Denzer, Vogt, & Reichrath, 2011). Few studies have been published about VDR gene polymorphisms and the associated risk for BCCs and/or SCCs (Han, Colditz, & Hunter, 2007; Kostner et al, 2012; Lesiak et al, 2011). The purpose of this study was to discover whether certain VDR gene polymorphisms, Apa1, Bsm1, Taq1, and Fok1, are associated with an increased risk of BCCs and/or SCCs in an Alabama population. Forty-one participants were recruited at the UAB Dermatology Clinics, filled out a questionnaire, and submitted a blood sample. The genotyping results, cancer diagnosis, and demographics were analyzed to detect relationships. The results demonstrated that there was not a statistically increased risk for SCCs or BCCs based on the type of VDR genotype for Taq1. Of note, even with such initial small numbers for our study, our numbers did approach significance (p=0.0671). In comparing our first genotypic results to the literature, the Taq1 results were inconsistent. Two previous studies, Lesiak et al. (2011) and Kostner et al. (2012), revealed an increased risk for BCC for those with certain Taq1 genotypes. While our study did not, there was a trend toward significance. Our finding with this first genotype is encouraging and prompted us to extend enrollment. If we group the non-melanoma skin cancers together (BCC and SCC), the difference of genotype compared to controls is significantly different (p=0.0257). From this study, further analysis and research was supported at UAB.
Also of note, a statistically significant finding for one of the confounding demographic factors we included showed that the use of sunscreen among the participants with SCCs was related to their genotype. For those with SCCs, those that “always” wore sunscreen were most likely to be those with the CC Taq1 genotype. With this exception, there were no other relationships found among cancer diagnosis, genotypes for Taq1, and demographic factors.
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Potential Determinants of Anxiety After a Positive Maternal Serum Screen Result for Trisomy 21*†
This study aimed to investigate potential determinants of maternal anxiety following a positive screen result for Down syndrome. Studies have been conducted to identify contributing factors to maternal anxiety during the prenatal screening process, such as referral reason and disclosure methods. It was hypothesized those with more experience with the condition would have less anxiety concerning a positive result. Participants completed an anonymous questionnaire concerning demographics and familiarity with Down syndrome as well as the State-Trait Anxiety Inventory, an anxiety measurement tool. Results indicate that those familiar with Down syndrome had a lower state anxiety than those who were unfamiliar with the condition (p = 0.0012). Other factors besides familiarity were assessed. Interestingly, participants who have other children had lower state anxiety on average. Further studies should confirm this data due to small sample size (n=47). A confirmed correlation would enable genetic counselors and others to anticipate patients that may be especially anxious regarding a positive result, and suggests an important role for education about the condition.
Are health care professionals able and willing to incorporate direct-to-consumer genetic test results into patient care?*§
Direct-to-consumer (DTC) genetic testing is any genetic test that is ordered without the involvement of a health care professional. There has been much debate over the past few years on how this new technology is impacting consumers and how to address the challenges it creates. The purpose of this study was to explore the awareness and perceptions of health care professionals at the University of Alabama at Birmingham regarding DTC genetic testing. A total of 761 physicians with medical degrees (M.D.) were invited to complete an online survey that asked questions about three types of DTC test results (disease risk, carrier testing, and pharmacogenetic drug response). There were 122 responses that were used for the final analysis. Approximately two-thirds of respondents (68.9%) were aware of DTC genetic testing. Pharmacogenetic test results were the most likely to be considered clinically useful (48.3%), beneficial to patient care (43.9%), and incorporated into the patient’s medical record (57%). Respondents reported that they were slightly more likely to be able to interpret carrier testing results compared to disease risk and pharmacogenetic test results. The majority of respondents who did not feel confident interpreting a particular test result said that they would refer the patient to another health care professional. This study gives insight into how DTC genetic testing is understood by physicians and integrated into the health care system. It will be important for future studies to investigate the real world application of how DTC genetic test results are affecting patient care.
Genetic Counseling Protocol for Exome Sequencing: Explaining the Unforeseen*
Exome sequencing is an emerging genomic technology with great potential to improve genetic diagnosis, medical management, and expand overall knowledge of disease etiology. Use of genomic technologies is becoming mainstream in research and clinical practice given a steady decline in cost and improved detection rate. Clinical interpretation and utility of exome sequencing results brings unique challenges due to secondary or incidental findings, variants of uncertain significance and other limitations of this technology. In current literature, no published guidelines exist explaining the informed consent and genetic counseling process for exome sequencing. Numerous questions remain unanswered surrounding genomic testing and how this information should be presented to the patient. The objective of this study was to elicit feedback from experts in the field of genetics in reference to key elements of the informed consent prior to exome sequencing. A survey was designed targeting genetic counselors, MDs, and PhD geneticists familiar with exome sequencing. One hundred and seventy three participants completed the open response survey, from which three main focus areas were identified: patient and medical views on exome sequencing, unexpected results, and genetic information and disc1imination. This report of information gathered from experts in the field can aid in an effort to create a comprehensive standardized protocol for genetic counseling that can be used in a setting for exome sequencing.
Characterizing the Unique Needs and Experiences of Adoptive Parents of Children with Cleft Lip and Palate*†#
Oral clefting is one of the most common birth defects worldwide, with an incidence of 1/500 to 1/700 births. Children with a cleft lip or palate face potential complications throughout their lives including issues with feeding, speech, and aesthetics. There are a significant number of internationally adopted children with clefting in the United States. There are numerous reports on the experiences of parents of children with cleft and, separately, of adoptive parents. However, to our knowledge no one has yet studied the combined experience of being an adoptive parent of a child with a cleft. Our pilot study, conducted through the Cleft Lip and Palate (CLP) Clinic at Children’s Hospital of Alabama, seeks to characterize the experiences of adoptive parents of children with clefting. The survey used included demographic as well as open-ended “experiential" questions. Data reveal that the majority of participants’ children were female, from China, had bilateral cleft lip and palate, and had no family history information available. A significant proportion of these children had additional health concerns and/or had been diagnosed with developmental delay. The experiential questions were analyzed for themes including knowledge about clefting, preparedness for raising a child with cleft, and challenges they have faced. Findings suggest that the majority of parents sought out a child with special medical needs and overall felt prepared for raising a child with cleft. Common reported challenges included speech difficulties and the need for additional surgeries, while the International Adoption Clinic and the staff of the CLP Clinic were reported as helpful resources.
A Medical Needs Assessment of Individuals with Ehlers-Danlos Syndrome*
Individuals living with the group of heritable connective tissue disorders known as Ehlers-Danlos syndrome (EDS) must cope with a variety of symptoms ranging from mild to debilitating, many of which require health care from providers that are unfamiliar with the condition. In order to identify areas of needs related to managing symptoms and obtaining adequate medical care, a needs assessment questionnaire was made available to individuals with all types of EDS in the United States and internationally. A total of 388 participants ages 19 and older with self-reported diagnoses of EDS completed a survey. Survey items were chosen to assess satisfaction levels in the categories of pain management, joint stabilization, interactions with health care providers, and access to health care. Results show that 42.4% (n=165) are having problems paying for the medical care they need; 78.6% (n=305) find that prescription medication helps relieve pain; 66.2% (n=257) of participants wished their doctor would take their complaints about pain more seriously; and 24.0% (n=93) are pleased with the resources they receive from their healthcare provider. Perceptions of healthcare provider knowledge varied by specialist type (p<0.0001). Our results show that many individuals with EDS require better informational resources, and more referrals to specialists who are knowledgeable and comfortable managing EDS.
Genetic Counseling
Please click on a link below to open a PDF version of the program handbook that corresponds with the chosen year.
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UAB Genetic Counseling Program
Supervisor Website
Thank you for serving as a supervisor for a UAB Genetic Counseling student. This website is designed to provide ongoing access to information you may find helpful as a supervisor.
This page has three sections:
- UAB Supervision Training Videos: short videos on topics specific to the UAB clinical training experience and more broad topics related to supervision.
- Other Training and Resources for Supervisors: additional videos, readings and documents to expand your supervision training and knowledge.
- Forms and Documents: items to help plan and execute a successful rotation.
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UAB Supervision Training Videos
Clinical Rotations Overview
- UAB clinical training design and objectives
- Review of clinical training that occurs in Y1 and Y2 of the program
- Rotation types, length and structure
- Clinical sites and site selection
- Rotation schedule
FERPA
- Definition of the Family Educational Rights and Privacy Act (FERPA)
- What information about a student do you need permission to share
- How FERPA applies to students on rotation
- How to uphold FERPA
- What to do if FERPA is violated
Student and Supervisor Expectations
- Importance of setting expectations for a rotation
- Who notifies students/supervisors of their expectations
- Overview of student expectations
- Overview of supervisor expectations
Orienting Your Student to Clinic
- Rotation orientation checklist
- Components of a rotation syllabus
- Components of a rotation schedule
- Clinic information to share with a student
- Institution/City information to share with a student
- Overview of supervision styles
- Student/supervisor communication
Case Requirements and Benchmarks
- Definition of a participatory and non-participatory case
- ACGC Standards for case logbooks
- What information is recorded in case logbooks
- Case nuances
- UAB specific case benchmarks
Goal Setting
- Importance of goal setting
- How to set goals with a student
- Resources for goal setting
- Types of goals
- Goal tracking
- Definition of a SMART goal
Feedback
- Times when supervisor provide feedback
- Effective and ineffective feedback strategies
- Example feedback scenarios
Rotation Assignments
- Benefits of assignments
- Clinic prep assignments
- Assignments to enhance the rotation experience
- Administrative assignments
- Rubrics
- Assignment feedback
Evaluations
- Evaluations completed by students
- Evaluations completed by supervisors
- Details of evaluating clinic performance, eValue case logs, midpoint and final performance
- Components of the midpoint and final rotation evaluations
- Resources for evaluating students
- Tips for evaluating students
- How to use the Cross Rotation Objectives in student evaluations
- Rotation grading
- Components of the site and supervisor evaluations
Remediation
- What constitutes remediation
- Notification of remediation
- Types of clinical remediation
- Outcomes of remediation
Supporting Students and Boundaries
- Why do students need support
- Student resources available through UAB
- Resources supervisors can provide to students
- Importance of boundaries
- When to discuss boundaries
- UAB specific boundaries
- Common boundary conundrums
- Additional resources of boundaries in supervision
Additional Resources for Supervisors
- Benefits of supervision
- How to further develop as a supervisor
- Print resources for supervision
- Training resources for supervision
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Other Training and Resources for Supervisors
Supervision of Genetic Counseling Students: How and Why
This training series was developed by members of the Association of Genetic Counseling Program Directors (AGCPD). It consists of short lectures and learning activities. Below is a summary of the content.
Introduction to Clinical Supervision:
- Paying it Forward: Training the Next Generation
- The Student-Supervisor Relationship
- From GC Student to GC Clinical Supervisor: Effective Supervision
Basic Concepts and Tasks:
- Goal Setting in Genetic Counseling Supervision: Basic Concepts and Skills
- Providing Feedback
- Clinical Evaluation Tools
Structure of Clinical Supervision:
- Teaching Clinical Skills
- Supervision of Psychosocial Skill Development
- Specific of Live Supervision
AGCPD Clinical Supervision Training
- Entrustment Video | Entrustment Slides
- Goal Setting Video | Goal Setting Slides
- Feedback Video | Feedback Slides
- Psychosocial Skills Video | Psychosocial Skills Slides
- Care for Supervisors Video | Care for Supervisors Slides
Diversity, Equity, Inclusion, and Justice (DEIJ)Supervision Training
Coming soon!
Supervision Forms and Worksheets
- Be Proactive: Reflect and Set Your Goals as a Supervisor Using This Form
- Supervisor Strategies
- Supervisor Emphasis Rating Form
Additional Reading on Supervision
- Systematic Review of GC Supervision Training in North America
- Genetic Counseling Supervision - A Call to Action
- Games in Clinical GC Supervision
- GC Supervision Competencies Results of Delphi Study
- GC Supervision Strategies: A Elaboration of the Reciprocal Engagement Model
- The Impact of Supervision Training on GC Supervisory Identity Development
- Boundary Issues and Multiple Relationships in Genetic Counseling Supervision
- Training the Millennial Learner
- The textbook A Guide to Genetic Counseling by Baker, Schuette, and Uhlmann (see their great chapter on Student Supervision)
- Zahm, K.W. "Professional Development: Reflective Genetic Counseling Practice." IN: LeRoy, B.S., McCarthy Veach, P., Bartels, D. M. (Eds). (2010). Genetic Counseling Practice: Advanced Concepts and Skills. New York: John Wiley and Sons. p. 353-380.
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Forms and Documents
Planning Documents
To Use in Sessions and Case Sign Off
Evaluation/Grading
- Cross Rotation Objectives
- Grading Rubric for Clinic Notes
- Grading Rubric for Presentations
- Midpoint Evaluation, Final Rotation Evaluation, Evaluation of Rotation Site, and Anonymous Evaluation of the Supervisor (Note: these are housed in eValue and are available here for your reference)
Continuing Education Credits
Remember that supervisors can get CEUs for supervision! Claim CEUs by following the instructions as outlined by the American Board of Genetic Counseling (ABGC) for the PAC credits. UAB will provide a letter to all primary supervisors documenting supervision efforts each summer.
Contact Information:
UAB’s Genetic Counseling Program
Jessica Denton, MS, CGC
Assistant Program Director
Email:This email address is being protected from spambots. You need JavaScript enabled to view it.
Phone: 205-934-6940
www.uab.edu/msgc
Plan your journey with UAB today by checking out our current job opportunities.
Clinical
UAB provides clinical genetic services across multiple specialties including cancer, prenatal, pediatric and adult genetics. At UAB, genetic counselors have the opportunity to work across specialties both independently and as part of multidisciplinary teams. Join our robust team of genetic counselors, physicians, nurses, genetic counseling assistants and staff in providing outstanding patient care.
Learn more about the UAB Department of Genetics and Children’s Hospital of Alabama.
Education
Make your mark on the future of genetic counseling by joining the UAB Genetic Counseling Program faculty. Inspire students while pursuing your goals in teaching, service, and research.
Learn more about the UAB School of Health Professions and the Department of Clinical and Diagnostic Sciences.
Laboratory
The world-renowned UAB Medical Genomics Laboratory has a special focus and expertise in all forms of the neurofibromatoses, rasopathies, and tuberous sclerosis. Genetic counselors in this laboratory are involved in everything from customer service and web design to research and teaching.
Learn more about the UAB Medical Genomics Lab.