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

Projects


  • 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:

    1. Diagnostic Odyssey,
    2. Appreciation,
    3. Diagnostic Outcome, and
    4. 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.

  • 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.

  • 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.

  • 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.

  • 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.

  • 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.

  • 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.

  • 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.