Assessing the Need for Reproductive Genetic Counseling Among Adults with Cystic Fibrosis.

BACKGROUND

Reproductive health has become an increasingly important focus for people with cystic fibrosis (CF), and guidelines have recommended routine inclusion of genetic counselors on care teams to address questions regarding infertility, pregnancy planning, prenatal diagnosis, and other reproductive health considerations. Despite this, implementation of genetic counseling is still lacking, and there is limited literature documenting patient perspectives on reproductive genetic counseling, particularly in the era of highly effective cystic fibrosis transmembrane conductance regulator (CFTR) modulators that have transformed the landscape of clinical care.

METHODS

An electronic REDCap survey was distributed to adults with CF at our center to assess the need for reproductive genetic counseling and to understand current reproductive health concerns. Descriptive statistics were used to report quantitative and demographic data, and a thematic analysis was performed for free-response data.

RESULTS

A total of 237 patients were surveyed, and 116 (49%) responded. Of the 116 respondents, 31 (27%) had never heard of genetic counseling, and 82 (71%) had not previously received it. Forty-four of these 82 (54%) reported that they would find genetic counseling moderately or very helpful. The most important reproductive health topics included the effect of CFTR modulators on fertility and pregnancy, and carrier screening for partners and family members. Qualitative analysis revealed key content categories, including fertility status, concerns and uncertainty with personal health, and lack of informed discussions with providers. Multiple respondents also highlighted not wanting to pass CF onto a child.

CONCLUSIONS

Our findings highlight a need and desire in the modern era among adults with CF for improved education regarding reproductive health.