NHGRI/DIR Genetic Counseling Training Program

National Human Genome Research Institute

Investigators

Linked publications & trials

Abstract

Six student theses were completed. In addition, program leadership collaborated on papers related to return of genomic results. The trainee studies are described below. Five out of six graduating trainees submitted abstracts for the annual NSGC meeting in November, 2022. All five are in the process of publication. Ben Akman. Advisors: Megan Cho, Debra Roter. While attention to communication training for clinicians is commonplace, there are relatively few interventions designed to assist patients to actively participate in the medical dialogue. We created two brief videos in which a simulated genetic counseling patient demonstrated six active communication skills. Participants (n=581) rated the simulated client, the utility of the video, and brief demonstrations of 6 communication skills. Skill clarity and utility were highly rated across all skills (>4 on a 5 point scale). Simulated client realism was also highly rated. Participants demonstrated a moderate to strong behavioral intention to use 4 to 5 skills at their next medical visit. In the cancer arm of the study, behavioral intention to use skills was stronger among participants with a personal or family history of breast cancer than other cancers. JaLisa Decker. Advisor: Leila Jamal. Few studies have focused on the roles genetic counselors (GCs) play in managing ethical dilemmas in genomic research. It is also unclear how GCs involvement in research overlaps with other sources of ethical guidance, such as from bioethics consultation services. This study aimed to clarify GCs roles in identifying and addressing ethical issues that arise in genomic research at the National Institutes of Health (NIH). The first phase of the study was a structured search of the NIH Bioethics Consultation Service database, resulting in an analysis of research ethics consultation notes over the past five years. The second phase involved 17 with GCs at five NIH institutes. The issues faced by GCs generally reflected those in the ethics consultation database, except there was a greater prevalence of research design issues documented in the consultation database. GCs played an active role in resolving ethical issues in clinical genomic research. GCs faced ethical issues about weighing benefits and harms to participants when obtaining consent for research, returning results, and sharing data, while considering the limited resource of genetic counseling. Some of these issues were associated with GC distress, including moral distress. GCs often collaborated with their research team to address ethical concerns and found ethics consultation to be valuable for particularly complicated scenarios. Jada Pugh. Advisor: Lori Erby. Adults with complex conditions receive non-diagnostic genetic testing results more often than diagnostic ones. In the absence of a genetic diagnosis, it is often unclear how these adults with complex undiagnosed conditions (ACUC) should receive ongoing care (OC). We sought to describe OC for ACUC who are likely to be seen for genetics services. A survey was distributed to adults with undiagnosed, chronic, complex, conditions who receive healthcare in the United States (n=40). Subsequently, 18 qualitative interviews were conducted and analyzed to describe their experiences of healthcare. We found that participants care teams and the roles filled by the providers on them were large and complex and often did not include an ongoing role for genetics providers; that fragmentation was a challenge in accessing care even in collocated teams; significant roles were taken on by patients, their families, and friends; and that community resources were absent from all care teams. Nadjalisse Reynolds-Lallement. Advisor: Debra Roter. This study aimed to understand how genetic counselors (GCs) tailor their sessions when communicating genetic information to children and adolescents. Forty GCs submitted audio recordings of themselves explaining a genetic condition of their choice to hypothetical patients of three different ages (5, 9, and 15 years old). GCs also filled out a survey assessing their attitudes and practices toward delivering genetic information to children and adolescents at differing developmental stages. Language complexity significantly increased with the age of the patient. Content analysis of the genetic explanations demonstrate that, for all patient ages, most participants discussed the name of the genetic diagnosis, described symptoms/features, and explained medical management. As the age of the patient increased, GCs were more likely to explain DNA and genes/chromosomes, disclose the name of the genetic diagnosis, and explain inheritance and recurrence risk. GCs surveyed generally expressed support for directly communicating with patients who are children/adolescents and valued tailoring language and content of explanations to the patients level of development. Despite this, some participants reported challenges in communicating effectively with children/adolescents. Margaret Sidor. Advisor: Lori Erby. Health care transition (HCT) is the process of adolescents and young adults (AYAs) taking an increased responsibility for health care management and decision-making and transferring from pediatric to adult providers. Li-Fraumeni Syndrome (LFS) is an inherited cancer pre-disposition syndrome with a nearly 100% lifetime risk for cancer, high childhood cancer rates and a demanding recommended surveillance schedule that adds a level of chronicity to LFS even in the absence of a cancer diagnosis. Research has shown that patients and families with other conditions often struggle with HCT, leading to increased health challenges as the patient ages. Although recent research shows that personalized care during transition including tailored collaboration and early planning can make HCT more effective, little is known about the influence of psychosocial facilitators and barriers and less still is known about the lived experiences of AYAs with LFS. Semi-structured interviews with 30 AYAs with LFS were conducted and analyzed for common themes. AYAs discussed their healthcare management process and, while many described the important role of family members, providers and other individuals during decision-making, some also discussed their independence in management. Participants described their experiences with changing healthcare management over time, and the importance of personalized, tailored support from both providers and support people in their lives. Wes Solem. Advisors: Debra Roter, Leila Jamal. Huntingtons disease (HD) is a severe, heritable, adult-onset neurological disorder that impairs mood, movement, cognition, and behavior, with a life expectancy of 15-20 years following symptom onset. Historically, most genetic counseling for Huntingtons disease (HDGC)particularly for predictive genetic testinghas been provided in-person, to assess an at-risk individuals psychological readiness to undergo genetic testing and to monitor for potential adverse reactions to test results. During the COVID-19 pandemic, many genetic counselors (GCs) were forced to provide HDGC via telehealth despite conventional practices. Little is known about GCs experiences of providing telegenetic counseling for HD (HD-TGC). We conducted a study consisting of surveys and interviews with HD GCs to assess the nature and extent of HD-TGC services offered during COVID-19 restrictions and GCs attitudes toward HD-TGC services. The survey was completed by 49 GCs. A sample of 16 GCs with HD-TGC experience were interviewed to discuss their attitudes in deeper detail. Most responses were favorable regarding assessments of: 1 their comfort in providing HD-TGC, 2 the perceived effectiveness and 3 quality of HD-TGC, and 4 the potential for HD-TGC to continue to be offered as an option beyond the COVID-19 pandemic.