Disclosing genetic research results: experiences of the Colon Cancer Family Registry

Abstract

Background: Literature on the ethics of returning research-generated genetic results to research participants has not reported on the practical experience of this activity. The Colon Cancer Family Registry (Colon CFR) has recruited participants from the US, Canada, Australia and New Zealand. Colon CFR molecular testing has identified deleterious germline mutations in a DNA mismatch repair (MMR) gene for members of 424 families (153 MLH1, 206 MSH2, 39 MSH6, 26 PMS2). Carriers of mutations in these genes are at high risk of colorectal, endometrial and other cancers. Aim: To document our diverse experiences in delivering clinically important genetic Results: and the uptake of genetic Results: by participants. Methods: When a deleterious MMR gene mutation is identified in a family member, predictive testing is conducted on all enrolled relatives of the carrier, and a letter offering to disclose this information is sent to all family members. If participants choose to receive their results, genetic counseling is provided to participants free of charge. To document the process, participating sites provided information on protocols for returning results, the number of participants offered testing and the number who accepted this offer. Results: A total of 1,542 participants in families with MMR or MYH gene mutations have been offered genetic information. Uptake of genetic test Results: by these participants ranged from 51 to 86%, across the four sites (p = 0.0001). Discussion The variation in uptake of genetic information could be related to differences in the potential for insurance discrimination, differences in the cost to consumers of genetic testing in the research and clinic setting, or cultural perceptions of the meaning of genetic information. These issues could be explored more fully in these population groups through additional data collection. Conclusions Delivering research-generated genetic Results: in the research setting, especially when sampling is population-based, provides both challenges and opportunities.