How do researchers manage genetic results in practice? The experience of the multinational Colon Cancer Family Registry

Louise A. Keogh, Douglass Fisher, Sherri Sheinfeld Gorin, Sheri D. Schully, Jan T. Lowery, Dennis J. Ahnen, Judith A. Maskiell, Noralane M. Lindor, John L. Hopper, Terrilea Burnett, Spring Holter, Julie L. Arnold, Steven Gallinger, Mercy Laurino, Mary-Jane Esplen, Pamela S. Sinicrope, for the Colon Cancer Family Registry

There is consensus internationally that research participants should be offered the opportunity to receive clinically relevant genetic information identified through research, but there is little empirical peer-reviewed work documenting this process. We report the experience of conducting genetic research with nearly 35,000 participants in the Colon Cancer Family Registry, based in the USA, Canada, Australia, and New Zealand. Investigators from six multinational sites provided information about disclosure protocols, implementation, and uptake of genetic results and made suggestions to inform practice. Across 5 of the 6 registry sites, 1,634 participants in families with mismatch repair or MutYH gene mutations have been offered results. Participant uptake ranged from 56 to 86 %. Researchers faced significant challenges in the effort to return results. We offer suggestions in five key areas: (1) planning for the disclosure process, (2) participant information, (3) autonomy of participants, (4) monitoring scientific progress, and (5) involvement of stakeholders. Despite increasing discussion of the importance of returning incidental findings from genetic research, this paper highlights the considerable diversity, challenges, and costs faced in practice when returning expected findings with established utility and validity. We argue that more work is needed to ensure that genetic results in research are optimally managed.