2026 Theses Master's

Mind the Gap: Understanding Sexual Reproductive Health and Genetic Knowledge in Adolescents with Cystic Fibrosis

Hamel, Olivia; Close, Charlotte; Bergner, Amanda; Hilfrank, Kimberly

Advances in cystic fibrosis (CF) care, including the use of highly effective CFTR modulator therapies, have significantly improved health outcomes and life expectancy for people with CF, shifting the landscape of the disease from one managed primarily in childhood to one that requires care across the full lifespan. As a result, adolescents and young adults with CF (AYACF) face a growing need for education and clinical support around sexual and reproductive health (SRH) and family planning. Prior research suggests that SRH education and genetic counseling remain variable and insufficient in CF care, particularly during the transition from pediatric to adult services. This study assessed baseline SRH and CF genetics knowledge as well as interest in genetic counseling among AYACF. A cross-sectional, mixed-methods survey was administered to AYACF aged 13-21 years recruited through Columbia University Irving Medical Center (CUIMC). The survey incorporated items from the CF Reproductive and Sexual Health Education (CF R.I.S.E.) Sexual Health Questionnaires and the validated CF Genetic Knowledge Questionnaire, in addition to investigator-developed questions assessing interest in genetic counseling and open-ended prompts regarding topics of interest. These measures assessed baseline knowledge of CF-related reproductive health and genetics, including inheritance, recurrence risk, and carrier status. Quantitative data were analyzed using descriptive statistics, and open-ended responses were analyzed using inductive content analysis. Thirteen participants completed the survey (ages 14-21 years; 62% assigned female at birth). While participants demonstrated understanding of general SRH concepts, gaps were identified in CF-specific areas. This included genetic inheritance, with only 23% of participants correctly identified the 1-in-4 recurrence risk when two CF carriers have a child together. Knowledge scores were descriptively higher among older participants and those assigned female at birth. Interest in genetic counseling was universally high, with 80% of participants expressing interest despite limited prior exposure. Qualitative responses highlighted uncertainty about inheritance, desire to understand and minimize reproductive risk, and interest in family planning and reproductive technologies.

These findings demonstrate that AYACF have foundational knowledge of general SRH concepts but significant gaps in CF genetics and reproductive risk understanding. High interest in genetic counseling, coupled with identified knowledge deficits and expressed informational needs, supports the integration of structured cystic fibrosis genetic counseling (CFgc) into transition care. This approach may improve genetic literacy, support informed reproductive decision-making, and enhance transition readiness. These findings may also inform the development of transition-focused genetic counseling models for adolescents with other lifelong genetic conditions for whom similar gaps in reproductive health education and genetic literacy exist.

Keywords: Cystic fibrosis; genetic counseling; reproductive health; adolescents; transition care