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.
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.
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.
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.
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.

Meet Our Alumni

Since 2012, we have graduated some of the brightest minds in Genetic Counseling. Below is a list of our graduates and where they currently work.

Class of 2012

Bailey SamSamuel Bailey
Collagen Diagnostic Laboratory
University of Washington
Seattle, WA
Molecular Laboratory

Beek JamisonJamison Beak
Allina Health
Minneapolis, MN

Cochran MeaganMeagan Cochran
HudsonAlpha Institute for Biotechnology
Huntsville, AL
Genomic Medicine, Genetics Education

Avery SamanthaSamantha Stover
Baylor College of Medicine
Houston, TX

Tuman DianaDiana Tuman
Ambry Genetics Laboratory
Marketing Department
Aliso Viejo, CA
Product Manager

Class of 2013

BaileyLaurenLauren Bailey
Duke University
Department of Pediatrics
Durham, NC
Metabolic and Research (LSD Registries)

BeekGeoffreyGeoffrey Beak
Children’s Hospitals and Clinics of Minnesota
Rochester, MN

BushLisaLisa Bush
Northside Hospital
Atlanta, GA

JohnsonJessicaJessica Denton
University of Alabama at Birmingham
Birmingham, AL
Genetic Counseling Education, Cancer Genetics

HollenbeckDanaDana Hollenbeck
University of Alabama at Birmingham
Birmingham, AL
Pediatric, Prenatal, Cancer, Adult Genetics

NorseAllieAllie Norse
Sacred Heart Hospital
Pensacola, FL

Class of 2014

Beretich LaurenLauren Beretich
Obstetrix Medical Group of Texas
Fort Worth, TX

Rachel ReeseRachel Covington
The West Clinic
Memphis, TN
Cancer, Prenatal

Davis RobinRobin Davis
Brookwood Baptist Medical Center
Birmingham, AL

Mariano AshleyAshley Migliaro
CaroMont Health
Gastonia, NC

Potente CatherineCatherine Potente
Ambry Genetics
Oklahoma City, OK
General Genetics Specialist

Giles EmilyEmily Wakefield
Cincinnati Children’s Hospital Medical Center
Cincinnati, OH
Molecular Laboratory

Class of 2015

Cannon AshleyAshley Cannon
University of Alabama at Birmingham
Birmingham, AL
Neurogenetics, Neurofibromatosis, Tuberous Sclerosis

Kelley WhitleyWhitley Kelley
HudsonAlpha Institute for Biotechnology
Huntsville, AL
Genomic Medicine, Genetics Education

Fuller BarbaraBarbara Fuller
Spartanburg Regional Hospital
Gibbs Cancer Center
Spartanburg, SC

Runyon AshleyAshley Runyon
Northside Hospital
Atlanta, GA

Watson EliseElise Watson
University of Texas Southwestern Medical Center
Dallas, TX

Williams CrescendaCrescenda Williams
Children's Medical Center of Dallas
Dallas, TX

Class of 2016

Austin KristinKirstin Austin
University of Alabama at Birmingham
Birmingham, AL
Pediatrics and Prenatal

Drazba KathrynKaty Drazba
Greenwood Genetic Center
Florence, SC

Kurpad ChandrikaChandrika Kurpad
St. Vincent's Hospital
Birmingham, AL

Lentz ColleenColleen Lentz
Wolfson Children’s Hospital
Jacksonville, FL

Schippman DanaDana Schippman
Medical College of Wisconsin
Milwaukee, WI
Ashley Cannon

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.
Ashley Runyon

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.
Barbara Fuller

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.
Crescenda Williams

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.
Elise Watson

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.