NHGRI/DIR Genetic Counseling Training Program

National Human Genome Research Institute

Investigators

Linked publications & trials

Abstract

Five student theses were completed. In addition, four alumni from prior cohorts published papers based on their thesis work. Select trainee studies from the most recent graduates are described below. All are in the process of publication. Olivia Dobbie. Advisor: Leila Jamal. Characterizing well-being in families affected by pediatric genetic conditions. Family well-being is a multifaceted construct encompassing various dimensions, including but not limited to emotional, social, financial, and physiological aspects. Understanding these domains is crucial for measuring the effects of interventions on family-centered outcomes and developing targeted interventions and support services tailored to the unique needs of families with a child or children affected by genetic conditions. This study identified and organized domains of family well-being important to family members of children with genetic conditions.The research consists of a scoping review and narrative synthesis of qualitative studies to explore dimensions of family well-being specific to families with children affected by genetic conditions. The scoping review was conducted following the framework developed by Arksey and O’Malley. A conceptual model of family well-being in this context was designed through analysis of the data extracted from the scoping review. The scoping review identified 53 articles assessing elements of family well-being in parents, caregivers, and/or siblings of children with a genetic condition. Thematic analysis of these articles yielded the development of four primary domains of family well-being: Emotional, Physical, Social, and Financial. Specific to families with children with genetic conditions, this review identified sub-domains including Health Service Quality, Awareness and Stigma, Child Autonomy, and more as relevant sub-domains. In the context of families with children with genetic conditions, domains and sub-domains of family well-being emerge as nuanced and interconnected concepts. The identified domains and sub-domains underscore the complex interplay of factors impacting these families. This research lays the groundwork for further exploration into how these domains can be effectively measured, including the identification and development of appropriate tools to assess these latent concepts. Understanding these domains can aid in the design of targeted interventions and support services that address the unique challenges faced by families navigating genetic conditions and also advance understanding of how genetic medicine interventions impact family well-being.. Austin Gable. Advisor: Lori Erby. Navigating medical interdependence as a young adult with Neurofibromatosis Type I: Parent and young adult perspectives. Transitioning from pediatric to adult healthcare represents a prominent care management challenge for people with childhood-onset conditions, such as Neurofibromatosis Type 1 (NF1). Much of the research into pediatric to adult care transition has traditionally focused on the needs of young adults (ages 18 to 21) to prevent discontinuation of care. Efforts have been made to understand the needs of young adults with NF1 undergoing this transition, leading to the development of clear guidelines and recommendations. However, this guidance does not extend beyond initial adult care transition and does not clearly address the roles of parents in helping young adults manage their health beyond this initial transition. Semi-structured qualitative interviews were conducted with young adults diagnosed with NF1 in childhood, now aged 23- to 33-years-old, and their respective parents. A total of 15 young adults and 14 parents, representing 13 pairs of young adults and parents, were purposively selected and interviewed separately. Thematic analyses across parent and young adult datasets highlight how parents provide logistic, financial, and decisional support for young adults as they move toward independence. Parents’ support extends into interdependent care relationships where parents provide varying degrees of support in accessing care, engaging in care, influencing decision-making, and providing informal support. These care relationships, shaped by individual parent and young adult motivations, exist on a spectrum of interdependence. Familial interdependence in managing care represents what can be considered a ‘secondary care transition,’ where clinicians may need to balance fostering independence and incorporating familial roles. India Little. Advisor: Bill Klein. Medical uncertainty and clinical research participants’ responses to negative uninformative genome sequencing results. Exome and genome sequencing are increasingly implemented in clinical and research settings, yet the diagnostic yield of genomic sequencing remains low, and most patients receive negative results. Due to their complexity and ambiguity, negative results may add uncertainty about the cause of one’s condition and the utility of genomic information. Because perceptions of uncertainty may be associated with one’s likelihood to adopt genetic technology, there is a need to understand patient responses to negative uninformative results and assess the use of educational materials in returning negative results and mitigating misinterpretations or adverse reactions. This study aimed to assess perceptions of uncertainty and engagement with genomic information in clinical research participants with negative uninformative genomic sequencing results. Two-hundred ninety-seven clinical research participants enrolled at the National Institutes of Health (NIH) clinical center completed a quantitative survey measuring genomic knowledge, perceived uncertainty, selected personal traits, and including some open-ended questions. Participants also read an informational page briefly describing their results. Higher perceptions of uncertainty in genomics were associated with decreased likelihood to communicate results, more negative attitudes towards genetic testing, and less confidence in seeking genetic information. Most participants understood their negative results to be reassuring, uninformative for their current care, and possibly limited based on the current understanding of their condition’s genetic etiology. Many participants had questions about what was and was not included in their genetic testing, and confusion regarding their clinical symptoms and lack of genetic findings. Patients with high perceptions of uncertainty may be more likely to misinterpret their negative results and be less equipped to seek further information; the opportunity to speak with a genetics provider about the meaning of the results and the possibility of reanalysis should be made readily available. Educational materials may be a useful tool for returning negative results, particularly in delineating the scope of the testing completed and the limitations inherent to genomic testing. Jennifer Osborne. Advisor: Julie Sapp. Healthcare behaviors in secondary findings recipients: A qualitative study. As more individuals receive broad genetic testing as access and technology improves, more individuals are receiving secondary findings (SFs), or genetic variants of medical value unrelated to the primary reason for testing (Katz et al., 2020). The principle justification for disclosing SFs to patients is the medical actionability of these variants (Green et al., 2013). However, the limited literature that exists suggests a significant portion of SF recipients are not adherent to recommended medical actions associated with their result (Sapp et al., 2021). The determinants of adherence in this population remain unexplored. Through a secondary analysis of semi-structured interviews from participants in the Genomic Services Research Program (GSRP) at NHGRI, this research project begins to address the gaps noted above by examining individuals’ experiences considering and accessing care after receiving a SF. Analysis focused on SFs associated with Lynch syndrome (LS) and BRCA1/2-hereditary breast and ovarian cancer (HBOC), as these cancer predisposition syndromes have been flagged by the CDC as candidates with the greatest potential to improve public health if included in future genomic population screening efforts. Twenty-six interviews were selected from LS and HBOC SF recipients, maximizing time spent engaging with recommendations and demographic diversity. Barriers and facilitators to adherence were identified and mapped onto existing behavior change and implementation science frameworks to yield potential interventions to increase adherence. Interviews were analyzed thematically until saturation was reached. SF recipients are a heterogeneous population, receiving results from a mixture of pathways and with variable personal and family histories of cancer or other illness. Overall, personal and family health histories informed SF recipients’ acceptance of health risk as well as their preparedness and rationale for healthcare action but rarely featured in their experience with genetic counseling for their result. Pathway to receiving the SF and strength of existing care networks informed participants’ experiences and ease seeking care for the secondary finding. Adherence remained vulnerable to challenges and change over time. Greater use of family history in SF counseling as well as enhanced and active referral and follow-up plans are needed to overcome barriers to fulfilling the promise of SFs.