| Abstract: |
Identifying mutation-carrying relatives of patients with hereditary cancer syndromes via cascade testing is an underused first step in primary cancer prevention. A feasibility study of facilitated genetic testing of at-risk relatives of patients with a known pathogenic mutation demonstrated encouraging uptake of cascade testing. Our primary objective is to compare the proportion of genetic testing of identified first-degree relatives of probands with a confirmedBRCA1/2mutation randomized to a facilitated cascade testing strategy versus standard of care, proband-mediated, information sharing. We hypothesize that facilitated cascade testing will drive significantly higher uptake of genetic testing than the standard of care. The FaCT (Facilitated Cascade Testing) trial is a prospective multi-institutional randomized study comparing the efficacy of a multicomponent facilitated cascade testing intervention with the standard of care. Patients with a knownBRCA1/2mutation (probands) cared for at participating sites will be randomized. Probands randomized to the standard of care group will be instructed to share a family letter with their first-degree relatives and encourage them to complete genetic testing. First-degree relatives of probands randomized to the intervention arm will receive engagement strategies with a patient navigator, an educational video, and accessible genetic testing services. Adult participants who are first-degree relatives of a patient with aBRCA1/2mutation and have not had prior genetic testing will be included. Analyses will assess the proportion of first-degree relatives identified by the proband who complete genetic testing by 6 months in the intervention arm versus the control arm. One hundred and fifty probands with a BRCA1/2 mutation will be randomized. Each proband is expected to provide an average of 3 relatives, for an expected 450 participants. January 2024. NCT04613440 © IGCS and ESGO 2021. No commercial re-use. See rights and permissions. Published by BMJ. |
