Original Article

Journal of Community Genetics

, Volume 5, Issue 2, pp 99-108

First online:

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

  • Louise A. KeoghAffiliated withCentre for Women’s Health, Gender and Society, The University of Melbourne Email author 
  • , Douglass FisherAffiliated withFred Hutchinson Cancer Research Center
  • , Sherri Sheinfeld GorinAffiliated withHerbert Irving Comprehensive Cancer Center, Columbia UniversityNational Cancer Institute (SAIC)
  • , Sheri D. SchullyAffiliated withDivision of Cancer Control and Population Sciences, National Cancer Institute, National Institutes of Health
  • , Jan T. LoweryAffiliated withDepartment of Epidemiology, Colorado School of Public Health
  • , Dennis J. AhnenAffiliated withDepartment of Medicine, Denver Department of Veterans Affairs Medical Center and University of Colorado School of Medicine
  • , Judith A. MaskiellAffiliated withCentre for Molecular, Environmental, Genetic and Analytic Epidemiology, The University of Melbourne
  • , Noralane M. LindorAffiliated withDepartment of Health Science Research, Mayo Clinic Arizona
  • , John L. HopperAffiliated withCentre for Molecular, Environmental, Genetic and Analytic Epidemiology, The University of Melbourne
    • , Terrilea BurnettAffiliated withCancer Research Center of Hawaii, University of Hawaii
    • , Spring HolterAffiliated withZane Cohen Centre for Digestive Diseases, Mount Sinai Hospital
    • , Julie L. ArnoldAffiliated withNew Zealand Familial Gastrointestinal Cancer Service, Auckland City Hospital
    • , Steven GallingerAffiliated withZane Cohen Centre for Digestive Diseases, Mount Sinai Hospital
    • , Mercy LaurinoAffiliated withFred Hutchinson Cancer Research Center
    • , Mary-Jane EsplenAffiliated withZane Cohen Centre for Digestive Diseases, Mount Sinai HospitalDepartment of Psychiatry, University of Toronto
    • , Pamela S. SinicropeAffiliated withDepartment of Medical Genetics, Mayo Clinic
    • , for the Colon Cancer Family Registry

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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.


Colorectal neoplasms Genetic predisposition testing Hereditary nonpolyposis Disclosure of research results