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.
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.
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.
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 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.
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.
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.
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.
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.
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.
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.