Ashley Cannon

Renal cell carcinoma (RCC) is the 8th leading cause of cancer and 3% of affected individuals also have a positive family history. In an attempt to identify familial and sporadic cases of RCC, Mayo Clinic’s renal mass registry was queried. Patients with a clinical diagnosis of a syndromic cause of RCC were excluded and familial cases were sequenced to confirm the lack of mutations in syndromic RCC genes. The resulting frequency of nonsyndromic familial RCC in this population was 3.5%.

To determine whether familial cases could be differentiated from sporadic RCC cases, the demographic, clinical, and pathologic features were examined. Comparison of these characteristics failed to exhibit significant differences between groups. This finding may be a consequence of small sample size or shared risk factors among relatives with RCC.
Ashley Runyon

Service learning (SL) has been shown to have a positive impact on students’ personal outcomes, academic learning, career development, and community relationships. Information regarding the integration of SL into genetic counseling training programs is limited.

This study aims to assess the prevalence of SL in genetic counseling training programs as well as program directors’ attitudes towards SL. Approximately 35% of genetic counseling programs that responded to an online survey have SL as part of their curriculum, and 76% consider SL to be very or somewhat important in genetic counseling training.

This data will be used to confirm the relevance of and interest in SL and provide guidance for integrating SL in genetic counseling training curricula.
Barbara Fuller

Psychiatric illness is common and has a complex genetic and environmental etiology. Despite the fact that genetic counseling can benefit individuals and family members affected by psychiatric illness, genetic counselors often feel unprepared or unqualified to address these conditions. Therefore, a clinical simulation was created, implemented, and evaluated. The scenario required genetic counseling students to address disease etiology and recurrence risk for a standardized patient with bipolar disorder.

Evaluations were completed before and after the simulation. Post-simulation comfort level increased an average of 65.9% for all participants. Averaged scores on content knowledge reflected no improvement. Overall, experiencing a simulation addressing psychiatric illness increased the comfort level of participants, thereby encouraging them to engage with an underserved population.
Crescenda Williams

Array comparative genomic hybridization (arrayCGH) is an advanced genetic test that can uncover many results. However, healthcare providers commonly hesitate to address all possible results with parents before testing children due to the sensitive nature of some potential results. An educational pamphlet describing arrayCGH and a survey were created and distributed to parents of children who had arrayCGH. Parental knowledge and opinions about their experience with arrayCGH were evaluated.

Results demonstrate parents want pre-test knowledge of all potential results and felt prepared for all results by the pamphlet. Overall, the pamphlet appeared to increase parental understanding of arrayCGH.
Elise Watson

Limited information is available regarding the effect of cancer survivorship clinics on survivors’ understanding and perception of their cancer experience.

This study examined the impact of attendance at a survivorship clinic on patient knowledge of diagnosis, treatment, and late effects, as well as patient opinions regarding information provided, severity of treatment, and support resources. Pre-clinic and post-clinic surveys were completed. While no statistically significant changes to patient knowledge or opinions were reported given the small sample size (n=8), insight to patients’ specific understanding and opinions of their cancer diagnosis, treatment, and potential for late effects was provided. These results offer valuable insights regarding the goals of this specific clinic from its teenage clients.
Whitley Kelley

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.
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.