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

Abstract

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.

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Acknowledgments

This work was supported by the National Cancer Institute, National Institutes of Health under RFA-CA-95-011 and through cooperative agreements with members of the Colon Cancer Family Registry and PIs. The content of this manuscript does not necessarily reflect the views or policies of the National Cancer Institute or any of the collaborating centers in the CFRs, nor does mention of trade names, commercial products, or organizations imply endorsement by the US Government or the CFR. We acknowledge each of the sites of the Colon CFR for contributing their experiences and data to this study: Australasian Colorectal Cancer Family Registry (U01 CA097735), Familial Colorectal Neoplasia Collaborative Group (U01 CA074799) [USC], Mayo Clinic Cooperative Family Registry for Colon Cancer Studies (U01 CA074800), Ontario Registry for Studies of Familial Colorectal Cancer (U01 CA074783), Seattle Colorectal Cancer Family Registry (U01 CA074794), University of Hawaii Colorectal Cancer Family Registry (U01 CA074806), and University of California, Irvine Informatics Center (U01 CA078296). We thank the members of the Translation Working Group who contributed to the ongoing discussion about disclosure of research and to the development of our recommendations. We also acknowledge the participants in each of the Colon Cancer Family Registries for their contribution. All authors of this manuscript have participated in its drafting and have read and approved the final version submitted.

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Correspondence to Louise A. Keogh.

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Keogh, L.A., Fisher, D., Sheinfeld Gorin, S. et al. How do researchers manage genetic results in practice? The experience of the multinational Colon Cancer Family Registry. J Community Genet 5, 99–108 (2014). https://doi.org/10.1007/s12687-013-0148-y

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Keywords

  • Colorectal neoplasms
  • Genetic predisposition testing
  • Hereditary nonpolyposis
  • Disclosure of research results