Long-Term Follow-Up Study on the Uptake of Genetic Counseling and Predictive DNA Testing in Inherited Cardiac Conditions

Abstract

Background - Inherited cardiac conditions (ICCs) present with a wide range of symptoms and may even result in sudden cardiac death (SCD). Relatives of probands with a confirmed pathogenic genetic variant are advised predictive DNA testing to enable prevention and treatment. In two previous cohort studies of 115 probands with a pathogenic variant, family-uptake of genetic counseling was assessed in the first year(s) after test result disclosure to the proband. This study assesses uptake in these cohorts in the 14-23 years following disclosure. Methods - Uptake was determined retrospectively using patient records. First-degree relatives, and second-degree relatives of a deceased first-degree relative suspected of having an ICC, were considered eligible. Results - Of 717 eligible relatives (598 first-degree and 119 second-degree relatives), 60% attended genetic counseling. Most of them (68.6%) attended genetic counseling in the first year. 98.4% of counseled relatives pursued predictive DNA-testing. 49.2% was identified as carrier. Median time between disclosure to the proband and counseling of relatives was 6 months (range 0-187 months). Attending genetic counseling was observed more frequently in first-degree relatives, female relatives, primary arrhythmia syndromes, relatives with manifest ICC, relatives without children and families with SCD in first-degree relatives < 40 years. Conclusions - During median follow-up of 16 years, 60.0% of relatives attended genetic counseling, with 41.0% in the first year. Our results may suggest that some relatives are not or inadequately informed, or that barriers against genetic counseling are present. Further research is needed into interventions facilitating family communication, increasing awareness among families and healthcare professionals, and lowering thresholds for genetic counseling.