Adults with childhood-onset genetic disease: planning for the future amid therapeutic innovation

Project Summary: The outlook for many childhood-onset genetic conditions has markedly improved in the last few decades because of specialized care, supportive treatment, and the introduction of disease-modifying therapies. Thus, increasing numbers of adults with childhood-onset genetic diseases are outliving their historical expectations. These welcome improvements create substantial prognostic uncertainty because the long-term impact of both novel treatments and aging in these diseases are unknown. From a psychosocial perspective, affected adults often grew up with expectations of a shortened lifespan, expectations that may no longer be accurate. Yet, little is known about how they conceptualize their evolving and uncertain prognoses or plan for their futures in light of these changes. Despite NIH’s Inclusion Across the Lifespan policy, these adult cohorts remain under-studied, surviving on an expanding but uncharted frontier of genetic medicine. As outcomes for many childhood-onset genetic conditions evolve with new therapies, there is a critical need to characterize how adults plan their lives given shifting prognoses. If this need remains unmet, genomic medicine risks replicating age biases towards studying younger cohorts, neglecting the needs of adult patients, and missing opportunities to anticipate the psychosocial needs of future adult cohorts with genetic conditions that have shifting prognostic implications. By using a disability studies framework to examine how adults with cystic fibrosis (CF), a prototypical childhood- onset chronic genetic condition, conceptualize their futures and plan their lives, I aim to identify novel clinical opportunities to support patients as they navigate future-oriented decisions amid prognostic uncertainty. The Aims of the proposed research are: Aim 1: Describe how adults with CF plan their futures via qualitative interviews with diverse sample of adult CF patients (N=45) about how their prognostic expectations inform future- oriented decisions. Aim 2: Describe how CF clinicians approach communicating with CF adults about planning their futures via qualitative interviews with clinicians (N=30) about whether and how they incorporate changes in disease trajectory into conversations with CF patients about healthcare and life decisions. Aim 3a: Develop a conceptual model that integrates insights from patient and clinician interviews with theory from disability studies to identify clinical opportunities to support adult CF patients as they plan for their futures. Aim 3b. Explore the relevance of the conceptual model to other contexts via focus groups involving adults with other childhood- onset genetic conditions. The candidate’s career goals are: 1) To produce impactful scholarship that improves the lives of adults with childhood-onset genetic conditions. 2) To pursue a career as an independent ELSI investigator by establishing an externally funded research program. Throughout the K01 Award period, the candidate will undertake coursework and directed readings in qualitative research methods, disability studies, and developmental psychology and will pursue activities focused on building a professional network around disability and genomics.