NHGRI/DIR Genetic Counseling Training Program

National Human Genome Research Institute

Investigators

Linked publications, trials & patents

Abstract

Five student theses were completed. In addition, program leadership collaborated on papers related to genetic counseling communication skills training. The trainee studies are described below. Four out of five trainees had abstracts accepted for the NSGC meeting in October, 2023. All five are in the process of publication. Julia Castro. Advisor: Jill Owczarzak. Reproductive decision-making (RDM) is known to be a complex process, especially for heterozygotes with a pathogenic X-linked genetic variant. We characterized RDM for X-linked heterozygotes and explored experiences of RDM from a community with a rare X-linked disease, Barth syndrome. We conducted a scoping review of the values and psychosocial experiences that influenced the RDM process and analyzed semi-structured interviews with 27 women with X-linked variants recruited through the Barth Syndrome Foundation. Analysis of articles from the scoping review showed that negative emotions like guilt, fear, and anxiety often accompanied RDM. Values like spirituality, conservation of personal resources, and a desire to avoid suffering were especially influential. Interview participants were highly susceptible to decisional conflict during RDM due to the possible transmission of a genetic variant. Facing these considerations could lead to negative emotions when personal values conflicted with other personal values or the opinions of others. To resolve the conflict, individuals re-prioritized their values, reconsidered the extent to which they allowed certain values to influence reproductive decisions, and altered the content of their values. Katelynd Faler. Advisor: Lori Erby. Genetic counseling (GC) research has increasingly regarded the therapeutic alliance, often assessed with the Working Alliance Inventory Short Revised (WAI-SR), as a variable through which GC outcomes may be mediated. In psychological research the WAI-SR is typically measured immediately following an encounter, but the increase in telemedicine has changed how and when patient surveys are administered. This exploratory analysis of GC outcomes sought to identify whether there was a relationship between the time lag between the visit and administration of the WAI-SR and WAI-SR scores. Data were drawn from two groups of research participants being seen for GC (Group 1 N = 106, Group 2 N = 242). Multiple linear regression was used to assess possible relationships between WAI-SR scores and time to post-survey completion by quartile, controlling for demographic and session variables, and WAI-SR scores, participant empowerment, and cardiac anxiety. For Group 1, the second time quartile was found to have a statistically significant relationship to WAI-SR scores (p = .003). No significant relationships to time were uncovered for Group 2. The lack of replication in WAI-SR score differences in the second group with a larger sample size offers initial reassurance that therapeutic alliance scores are consistent regardless of timing of administration. Emerald Kaitryn. Advisors: Leila Jamal and Lori Erby. Tumor sequencing (TS) is used by most oncologists for precision treatment and has been found to reveal potential germline cancer predisposition variants (PGCVs) in 12-14% of cases. Reviewing TS results to identify PGCVs requires expertise, though guidelines have not yet established different clinicians responsibilities in result interpretation and making referrals. Cancer GCs are a good fit for both identifying PGCVs and referral for confirmatory testing, though cancer GCs current role and attitudes related to this work are unknown. We conducted an anonymous online survey of cancer GCs. A majority of respondents (n = 128/154) reported receiving training on this topic, mostly through conferences (74.2%) or self-study (67.4%). Clinical workflows were listed as a top referral facilitator for these cases by most participants (n = 101, 86.3%), though for half this was not in place at their institution (n = 68, 50.4%). Over 90% endorsed TS PGCV identification and management as part of cancer GC scope of practice (n = 123-126). Family still appeared to be an important source of information for GCs to recommend cancer risk assessment in case vignettes. Overall, responses varied by practice setting, role of GC involvement, and training type. While most respondents agreed that evaluating TS for PGCVs falls under the cancer GC scope of practice, there were variations in individual roles, views on the scope of others, and interpretation and management strategies. Sarah Roth. Advisor: Leila Jamal. Individuals with diverse gender identities, whose gender identity or expression differ from their sex assigned at birth, are being newly recognized as a significant proportion of the population seeking genetic counseling. Yet, transgender and non-binary individuals are underrepresented in genetic counseling research, affecting the quality and equity of care received. These issues are particularly significant in the field of cancer genetic counseling, where gender diverse individuals with elevated cancer risk receive risk assessment, counseling, and referral to support based on risk figures and standards of care developed for presumed cisgender individuals. We explored the lived experiences of gender diverse individuals with increased risk of cancer through semi-structured interviews with twenty transmasculine and nonbinary adults who have hereditary cancer syndromes, known family histories of a hereditary cancer syndrome, or personal histories of breast cancer. Across interviews, participants explored how hereditary cancer care intertwined with their visions for, and experiences of, gender-affirming care. Specifically, resonances between top surgery and risk-reducing mastectomy were discussed. Participants also reflected on specific care experiences that stood out to them as affirming or dysphoric. Finally, participants discussed how providers could better support them as gender diverse patients: mindfully using gendered language, partnering around difficult decisions, and conveying allyship. Jessica Sweeney. Advisor: Cindy James. Arrhythmogenic Right Ventricular Cardiomyopathy (ARVC) is a genetic condition that predisposes individuals to arrythmia, cardiomyopathy, and sudden cardiac death (SCD). It is recommended that those diagnosed with or at-risk for ARVC restrict exercise. Guidelines recommend shared decision making (SDM), but there has been little exploration as to whether SDM is happening or its impact on exercise decision-making. Adults diagnosed with ARVC or who had tested positive for genetic ARVC-risk enrolled in the Johns Hopkins ARVC Registry were invited to complete a one-time questionnaire that included exercise history, athlete identity, SDM (SDM-Q-9), decisional conflict (DCS), and decisional regret (DRS). A majority of respondents (68.0%, n=121) reported clinically significant decisional conflict regarding exercise at the time of ARVC diagnosis or genetic testing (DCS25), while 55.1% (n=98) reported clinically significant decisional conflict in the year prior to study completion. Prevalence of decisional regret was also high, with 55.3% (n=99) of participants experiencing moderate to severe decisional regret (DRS25). Decisional conflict scores at the time of diagnosis or genetic testing were linearly associated with SDM-Q-9 scores (= -.66 R2=0.567, p<0.01). Those diagnosed at 21 or younger reported significantly more SDM (12.85.1, p=0.013) and less decisional conflict (-10.14.5, p=0.03) than those diagnosed later. Results indicate that SDM may be the preferred model of exercise decision-making for those with ARVC.