Implications of generating genetic test results for colon cancer in the international, population-based colon cancer family registry.

Gastrointestinal (Colorectal) Cancer
Session Type and Session Title: 
General Poster Session, Gastrointestinal (Colorectal) Cancer
Abstract Number: 


J Clin Oncol 30, 2012 (suppl; abstr 3567)
Louise A. Keogh, Douglass Fisher, Sherri Sheinfeld Gorin, Sheri D Schully, Jan Lowery, Dennis J. Ahnen, Judith A Maskiell, Noralane M. Lindor, John L. Hopper, Terrilea Burnett, Spring Holter, Julie Arnold, Steven Gallinger, Mercy Laurino, Mary-Jane Esplen, Pamela S Sinicrope, Colon Cancer Family Registry; The University of Melbourne, Melbourne, Australia; Fred Hutchinson Cancer Research Center, Seattle, WA; Columbia University, New York, NY; National Cancer Institute, Bethesda, MD; University of Colorado Denver, Aurora, CO; University of Colorado, Denver, CO; Mayo Clinic, Rochester, MN; University of Hawaii, Honolulu, HI; Mt. Sinai Hospital, Toronto, ON, Canada; Auckland City Hospital, Auckland, Australia; Mount Sinai Hospital, Toronto, ON, Canada; University of Toronto, Toronto, ON, Canada

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Abstract Disclosures


Background: The ability to genotype large numbers of people rapidly and inexpensively for research purposes highlights the need to develop guidelines for providing medically-relevant research results - including unanticipated findings - to study participants. The Colon Cancer Family Registry (C-CFR) is the oldest and largest international colon cancer population-based registry; its experience managing genetic research findings can offer guidance to clinicians and researchers. The C-CFR has enrolled 10,019 cases with colon cancer and 24,708 family members in six registries in the US, Canada, Australia, and New Zealand. Deleterious (“high risk”) germline mutations have been identified in DNA mismatch repair (MMR) genes (MLH1, MSH2, MSH6, PMS2) and the MutYH gene. The aims of this presentation are to: (1) report the uptake of genetic test results by C-CFR participants; (2) systematically compare disclosure protocols and barriers to uptake by registry; (3) make recommendations to guide clinicians and researchers. Methods: Uptake of genetic test results was calculated from data collected by the C-CFR; key investigators (KIs) from each registry completed a survey about disclosure decision-making; KIs also took part in discussions to generate recommendations. Results: Registry-wide molecular testing has identified deleterious MMR germline mutations for at least one member of 424 families (4%) and 48 biallelic MutYH gene carriers. Uptake of test results ranged from 56-86% (n= 1542) across registries. Barriers to disclosure include: (1) lack of pre-existing notification protocols; (2) logistics of re-consent; (3) limited involvement of genetic counselors at some registries; (4) in the US, the requirement that genetic testing be performed in a CLIA approved laboratory; (5) IRBs declining approval; and (6) budget constraints. Conclusions: Based on our international registry’s findings we recommend that researchers generating genetic information establish plans for disclosure at the outset; obtain subject consent a priori; consider subject knowledge and disclosure preferences; provide guidance and budget for clinical follow-up; and involve genetic counselors.