Perspectives of people with cystic fibrosis considering parenthood surrounding preconception and prenatal genetic counseling and testing.

Abstract

Background: People with cystic fibrosis (pwCF) are increasingly considering their reproductive options. Currently, there are many genetic testing options available for pwCF and their reproductive partners. Healthcare providers, including genetic counselors, can educate pwCF about these options and support them through the decision-making process.

Objective: This study explored the role of genetics in the reproductive decisions of pwCF and their perspectives and experiences surrounding prenatal and preconception genetic counseling and testing.

Design: We conducted a qualitative study of a national US sample of pwCF age ⩾18 years recruited from the CF Foundation Community Voice platform.

Methods: We conducted and recorded semi-structured telephone interviews with participants. We utilized Dedoose software and applied inductive thematic analysis to code the interview transcripts and elicit themes.

Results: We interviewed 21 participants (76.2% women, 95.2% White, 4.8% Hispanic, 57.1% parents, 23.8% considering parenthood). Key themes included: (1) pwCF appeared to understand the genetics of CF and were typically first introduced to CF genetics by CF providers, school, or their parents; (2) pwCF had diverse perspectives on having a child with CF; (3) carrier testing was an important consideration for some participants when making decisions about biological parenthood; (4) participants understood the role of genetic counselors and valued their knowledge, but only half previously met with a genetic counselor; (5) pwCF believed genetics information should be presented during childhood/adolescence and reinforced when interested in family planning.

Conclusion: pwCF have discrepant views on passing on CF to future offspring, and although there is recognition of the role of genetic counseling and a desire for knowledge from genetic testing, genetic considerations are but one factor involved in parenthood decisions. Future work should develop patient-, provider-, or system-based interventions to best integrate high-quality genetics and genetic counseling care into the CF team for those with CF considering parenthood.