The Responsibility to Recontact Research Participants after Reinterpretation of Genetic and Genomic Research Results

Yvonne Bombard¹, Kyle B Brothers², Sara Fitzgerald-Butt³, Nanibaa' A Garrison⁴, Leila Jamal⁵, Cynthia A James⁶, Gail P Jarvik⁷, Jennifer B McCormick⁸, Tanya N Nelson⁹, Kelly E Ormond¹⁰, Heidi L Rehm¹¹, Julie Richer¹², Emmanuelle Souzeau¹³, Jason L Vassy¹⁴, Jennifer K Wagner¹⁵, Howard P Levy¹⁶

Affiliations

¹ Social Issues Committee, American Society of Human Genetics, Rockville, MD 20852, USA; Institute of Health Policy, Management, and Evaluation, University of Toronto, Toronto, ON M5T 3M6, Canada; Li Ka Shing Knowledge Institute, St. Michael's Hospital, Toronto, ON M5B 1T8, Canada. Electronic address: yvonne.bombard@utoronto.ca.
² Social Issues Committee, American Society of Human Genetics, Rockville, MD 20852, USA; Department of Pediatrics, University of Louisville, Louisville, KY 40202, USA.
³ National Society of Genetic Counselors, Chicago, IL 60611, USA; Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, IN, 46202, USA.
⁴ Social Issues Committee, American Society of Human Genetics, Rockville, MD 20852, USA; Treuman Katz Center for Pediatric Bioethics, Seattle Children's Hospital and Research Institute, Seattle, WA 98101, USA; Department of Pediatrics, University of Washington School of Medicine, Seattle, WA 98101, USA.
⁵ Social Issues Committee, American Society of Human Genetics, Rockville, MD 20852, USA; National Society of Genetic Counselors, Chicago, IL 60611, USA; National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD, 20892, USA.
⁶ National Society of Genetic Counselors, Chicago, IL 60611, USA; Division of Cardiology, Department of Medicine, Johns Hopkins University, Baltimore, MD 21205, USA.
⁷ Executive Committee, American Society of Human Genetics, Rockville, MD 20852, USA; Departments of Medicine (Medical Genetics) and Genome Sciences, University of Washington, Seattle, WA 98195, USA.
⁸ Social Issues Committee, American Society of Human Genetics, Rockville, MD 20852, USA; Department of Humanities, College of Medicine, Pennsylvania State University, Hershey, PA 17033, USA.
⁹ Canadian College of Medical Geneticists, Kingston, ON K7K 1Z7, Canada; BC Children's Hospital Research Institute, Vancouver, BC V5Z 4H4, Canada; Department of Pathology and Laboratory Medicine, University of British Columbia, Vancouver, BC V6T 2B5, Canada; Department of Pathology and Laboratory Medicine, BC Children's Hospital, Vancouver, BC V6H 3N1, Canada; Department of Medical Genetics, University of British Columbia, Vancouver, BC V6H 3N1, Canada.
¹⁰ Social Issues Committee, American Society of Human Genetics, Rockville, MD 20852, USA; Department of Genetics and Stanford Center for Biomedical Ethics, Stanford University School of Medicine, Stanford University, Stanford, CA 94305, USA.
¹¹ Department of Pathology, Harvard Medical School, Boston, MA 02115, USA; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA 02114, USA; Medical and Populations Genetics, Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA.
¹² Canadian College of Medical Geneticists, Kingston, ON K7K 1Z7, Canada; Department of Pediatrics, Children's Hospital of Eastern Ontario (CHEO), Ottawa, ON K1H 8L1, Canada; University of Ottawa, Ottawa, ON K1N 6N5, Canada.
¹³ Canadian Association of Genetic Counsellors, Oakville, ON L6J 7N5, Canada; Department of Ophthalmology, Flinders University, Flinders Medical Centre, Adelaide, SA 5042, Australia.
¹⁴ Department of Pathology, Harvard Medical School, Boston, MA 02115, USA; Department of Medicine, Harvard Medical School and Brigham and Women's Hospital, Boston, MA 02115, USA; VA Boston Healthcare System, Boston, MA 02130, USA.
¹⁵ Social Issues Committee, American Society of Human Genetics, Rockville, MD 20852, USA; Center for Translational Bioethics and Health Care Policy, Geisinger Health System, Danville, PA 17822, USA.
¹⁶ Social Issues Committee, American Society of Human Genetics, Rockville, MD 20852, USA; Division of General Internal Medicine, Department of Medicine, Johns Hopkins University, Baltimore, MD 21205, USA; McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University, Baltimore, MD 21205, USA.

PMID: 30951675
PMCID: PMC6451731
DOI: 10.1016/j.ajhg.2019.02.025

The Responsibility to Recontact Research Participants after Reinterpretation of Genetic and Genomic Research Results

Yvonne Bombard et al. Am J Hum Genet. 2019.

. 2019 Apr 4;104(4):578-595.

doi: 10.1016/j.ajhg.2019.02.025.

Authors

Affiliations

¹ Social Issues Committee, American Society of Human Genetics, Rockville, MD 20852, USA; Institute of Health Policy, Management, and Evaluation, University of Toronto, Toronto, ON M5T 3M6, Canada; Li Ka Shing Knowledge Institute, St. Michael's Hospital, Toronto, ON M5B 1T8, Canada. Electronic address: yvonne.bombard@utoronto.ca.
² Social Issues Committee, American Society of Human Genetics, Rockville, MD 20852, USA; Department of Pediatrics, University of Louisville, Louisville, KY 40202, USA.
³ National Society of Genetic Counselors, Chicago, IL 60611, USA; Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, IN, 46202, USA.
⁴ Social Issues Committee, American Society of Human Genetics, Rockville, MD 20852, USA; Treuman Katz Center for Pediatric Bioethics, Seattle Children's Hospital and Research Institute, Seattle, WA 98101, USA; Department of Pediatrics, University of Washington School of Medicine, Seattle, WA 98101, USA.
⁵ Social Issues Committee, American Society of Human Genetics, Rockville, MD 20852, USA; National Society of Genetic Counselors, Chicago, IL 60611, USA; National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD, 20892, USA.
⁶ National Society of Genetic Counselors, Chicago, IL 60611, USA; Division of Cardiology, Department of Medicine, Johns Hopkins University, Baltimore, MD 21205, USA.
⁷ Executive Committee, American Society of Human Genetics, Rockville, MD 20852, USA; Departments of Medicine (Medical Genetics) and Genome Sciences, University of Washington, Seattle, WA 98195, USA.
⁸ Social Issues Committee, American Society of Human Genetics, Rockville, MD 20852, USA; Department of Humanities, College of Medicine, Pennsylvania State University, Hershey, PA 17033, USA.
⁹ Canadian College of Medical Geneticists, Kingston, ON K7K 1Z7, Canada; BC Children's Hospital Research Institute, Vancouver, BC V5Z 4H4, Canada; Department of Pathology and Laboratory Medicine, University of British Columbia, Vancouver, BC V6T 2B5, Canada; Department of Pathology and Laboratory Medicine, BC Children's Hospital, Vancouver, BC V6H 3N1, Canada; Department of Medical Genetics, University of British Columbia, Vancouver, BC V6H 3N1, Canada.
¹⁰ Social Issues Committee, American Society of Human Genetics, Rockville, MD 20852, USA; Department of Genetics and Stanford Center for Biomedical Ethics, Stanford University School of Medicine, Stanford University, Stanford, CA 94305, USA.
¹¹ Department of Pathology, Harvard Medical School, Boston, MA 02115, USA; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA 02114, USA; Medical and Populations Genetics, Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA.
¹² Canadian College of Medical Geneticists, Kingston, ON K7K 1Z7, Canada; Department of Pediatrics, Children's Hospital of Eastern Ontario (CHEO), Ottawa, ON K1H 8L1, Canada; University of Ottawa, Ottawa, ON K1N 6N5, Canada.
¹³ Canadian Association of Genetic Counsellors, Oakville, ON L6J 7N5, Canada; Department of Ophthalmology, Flinders University, Flinders Medical Centre, Adelaide, SA 5042, Australia.
¹⁴ Department of Pathology, Harvard Medical School, Boston, MA 02115, USA; Department of Medicine, Harvard Medical School and Brigham and Women's Hospital, Boston, MA 02115, USA; VA Boston Healthcare System, Boston, MA 02130, USA.
¹⁵ Social Issues Committee, American Society of Human Genetics, Rockville, MD 20852, USA; Center for Translational Bioethics and Health Care Policy, Geisinger Health System, Danville, PA 17822, USA.
¹⁶ Social Issues Committee, American Society of Human Genetics, Rockville, MD 20852, USA; Division of General Internal Medicine, Department of Medicine, Johns Hopkins University, Baltimore, MD 21205, USA; McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University, Baltimore, MD 21205, USA.

PMID: 30951675
PMCID: PMC6451731
DOI: 10.1016/j.ajhg.2019.02.025

Abstract

The evidence base supporting genetic and genomic sequence-variant interpretations is continuously evolving. An inherent consequence is that a variant's clinical significance might be reinterpreted over time as new evidence emerges regarding its pathogenicity or lack thereof. This raises ethical, legal, and financial issues as to whether there is a responsibility to recontact research participants to provide updates on reinterpretations of variants after the initial analysis. There has been discussion concerning the extent of this obligation in the context of both research and clinical care. Although clinical recommendations have begun to emerge, guidance is lacking on the responsibilities of researchers to inform participants of reinterpreted results. To respond, an American Society of Human Genetics (ASHG) workgroup developed this position statement, which was approved by the ASHG Board in November 2018. The workgroup included representatives from the National Society of Genetic Counselors, the Canadian College of Medical Genetics, and the Canadian Association of Genetic Counsellors. The final statement includes twelve position statements that were endorsed or supported by the following organizations: Genetic Alliance, European Society of Human Genetics, Canadian Association of Genetic Counsellors, American Association of Anthropological Genetics, Executive Committee of the American Association of Physical Anthropologists, Canadian College of Medical Genetics, Human Genetics Society of Australasia, and National Society of Genetic Counselors.

Keywords: genetics; genetics policy; genomics; participants; recontact; research.

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Figures

**Figure 1**
Recommended Pathway for Considering Recontacting Participants after Reinterpretation of Genetic and Genomic Research Results Reinterpretation refers to both reclassification of variants and reanalysis of original data (per the section “What Does It Mean to Reinterpret Results?”). To be used in conjunction with recommendations listed in Box 1.

See this image and copyright information in PMC

References

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The Responsibility to Recontact Research Participants after Reinterpretation of Genetic and Genomic Research Results

Affiliations

The Responsibility to Recontact Research Participants after Reinterpretation of Genetic and Genomic Research Results

Authors

Affiliations

Abstract

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Grants and funding

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Full Text Sources

Medical