GC Student Work

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 poster presentation at NSGC Conference

Class of 2012 student projects

       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.

Class of 2013 student projects

      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.

Class of 2014 project titles (abstracts soon to come)

      Implementing Minority Education for Breast Cancer Genetics

      Developing a Protocol for a New Undiagnosed Disease Clinic

      Creation of a Von-Hippel Lindau Clinic at UAB

      Crisis Training in Genetic Counseling

      Investigation of Feasibility for Molecular Newborn Screening for Genetic Hearing Loss

      Social Support for Carrier Families Undergoing Prenatal Diagnosis