Research participant interest in primary, secondary and incidental genomic findings: Intentions to receive genomic research results

PURPOSE: To define the frequency with which adult research participants consent to be offered clinically-validated research genetic test results (RR) and incidental findings (IF). METHODS: Consents were obtained from 506 adults enrolled in one of three studies within NCI’s Clinical Genetics Branch’s Familial Cancer Research Program. A cross-sectional analysis was performed on the choices indicated on study consents regarding receipt of RR and IF. RESULTS: Ninety-seven percent opted to receive RR and IF. Participants who declined (N=16) included: 2 cancer survivors who were mutation positive (1=RR and 1=both), 8 who knew their primary mutation status (3=RR; 4=IF; 1= both), 3 non-bloodline relatives (1=RR; 2=both), 1 untested but with the syndromic phenotype (1=IF), and 2 parents of an affected child (2=both). We speculate that these individuals either already had sufficient information, were not prepared to learn more, or felt that the information wouldn’t change their personal healthcare decision-making. CONCLUSIONS: Adult research participants from families at high genetic risk of cancer overwhelmingly indicated their preference to receive both RR and IF. Future research will seek to identify the reasons for declining RR and IF and to study the impact of receipt of RR and IF on personal medical decision-making.