Assessment of a novel genetic counselling intervention to inform assisted reproductive technology treatments and other family-building options in adults with cystic fibrosis

Abstract

Many patients with cystic fibrosis (CF) are living well into their adult years and contemplating parenthood. Previous studies have shown that there is an opportunity to improve understanding of inheritance and genetics among individuals with CF. This study explored whether a genetic counselling intervention would be associated with a change in knowledge and/or beliefs about genetics and family-building options. Adults (age ≥ 18 years) presenting to a CF clinic were approached for inclusion. Participants completed a pre-intervention survey to measure their knowledge of CF genetics, as well as perceptions and understanding of assisted reproductive technology treatments and other family-building options. Subjects then partook in a genetic counselling session. Subjects repeated the survey immediately after the session and 1–3 months later. Data analysis used one-way analysis of variance (ANOVA), repeated measures ANOVA and multiple linear regression. Thirty-five subjects [19 (54%) men and 16 (45%) women] with a mean (±standard deviation) age of 28 ± 5.64 years were enrolled in the study. Before the intervention, 61.69% ± 4.50 of knowledge-based questions were answered correctly. Immediately after the intervention, the mean score increased to 77.71% ± 3.23, but this decreased to 69.48% ± 4.02 for the third test (P < 0.05, repeated measures ANOVA). Six individuals changed their family-building preference following the genetic counselling session. A short genetic consultation was associated with a significant improvement in CF-specific genetic knowledge. However, knowledge was not retained fully for a longer time period following the consultation. Multiple discussions regarding fertility options are needed to reinforce the key concepts related to CF genetics and fertility.