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Assessing the Need for Reproductive Genetic Counseling Among Adults with Cystic Fibrosis
Ellis Coulter1, Sierra Knapp1, Maddy Grassy1
1University of Washington.
Research Square
|May 25, 2026
Summary
Many adults with cystic fibrosis (CF) are unaware of or have not received genetic counseling for reproductive health. There is a significant need and desire for improved education on fertility and genetic implications for future children.
Area of Science:
- Reproductive Health
- Genetic Counseling
- Cystic Fibrosis (CF) Care
Background:
- Reproductive health is a growing concern for individuals with cystic fibrosis (CF).
- Guidelines recommend genetic counselors for CF care teams, yet implementation is lacking.
- Limited data exists on patient perspectives, especially with new CFTR modulator therapies.
Purpose of the Study:
- To assess the need for reproductive genetic counseling in adults with CF.
- To understand current reproductive health concerns among CF patients.
- To explore patient perspectives on genetic counseling in the context of CFTR modulators.
Main Methods:
- An electronic REDCap survey was administered to adults with CF.
- Quantitative data analyzed using descriptive statistics.
- Qualitative free-response data underwent thematic analysis.
Main Results:
- 49% of surveyed patients responded; 27% had never heard of genetic counseling, 71% had not received it.
- 54% of those who hadn't received counseling found it potentially helpful.
- Key concerns included CFTR modulator effects on fertility/pregnancy and partner/family carrier screening.
Conclusions:
- Adults with CF express a need and desire for enhanced reproductive health education.
- Patient perspectives reveal significant gaps in awareness and access to genetic counseling.
- Addressing concerns about passing CF to offspring is a critical unmet need.
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