Navigating the research-clinical interface in genomic medicine: analysis from the CSER Consortium

Susan M Wolf¹, Laura M Amendola², Jonathan S Berg³, Wendy K Chung⁴, Ellen Wright Clayton⁵, Robert C Green⁶, Julie Harris-Wai⁷, Gail E Henderson⁸, Gail P Jarvik^{2

9}, Barbara A Koenig¹⁰, Lisa Soleymani Lehmann^{11

12}, Amy L McGuire¹³, Pearl O'Rourke¹⁴, Carol Somkin¹⁵, Benjamin S Wilfond¹⁶, Wylie Burke^{2

17}

Affiliations

¹ Law School; Medical School; Consortium on Law and Values in Health, Environment & the Life Sciences, University of Minnesota, Minneapolis, Minnesota, USA.
² Medical Genetics, Department of Medicine, University of Washington, Seattle, Washington, USA.
³ Departments of Genetics and Medicine, University of North Carolina at Chapel Hill, Chapel Hill, North Carolina, USA.
⁴ Departments of Pediatrics and Medicine, Columbia University, New York, New York, USA.
⁵ Center for Biomedical Ethics and Society, Vanderbilt University Medical Center, Nashville, Tennessee, USA.
⁶ Genetics, Department of Medicine, Brigham and Women's Hospital, Broad Institute and Harvard Medical School, Boston, Massachusetts, USA.
⁷ Institute for Health and Aging, University of California-San Francisco; Division of Research, Kaiser Permanente Northern California, San Francisco, California, USA.
⁸ Department of Social Medicine, University of North Carolina at Chapel Hill, Chapel Hill, North Carolina, USA.
⁹ Department of Genome Sciences, University of Washington, Seattle, Washington, USA.
¹⁰ Program in Bioethics, Institute for Health and Aging, University of California-San Francisco, San Francisco, California, USA.
¹¹ Veterans Administration National Center for Ethics in Health Care, Washington, DC, USA.
¹² Harvard University, Cambridge, Massachusetts, USA.
¹³ Center for Medical Ethics and Health Policy, Baylor College of Medicine, Houston, Texas, USA.
¹⁴ Human Research Affairs, Partners HealthCare, Boston, Massachusetts, USA.
¹⁵ Division of Research, Kaiser Permanente Northern California, Oakland, California, USA.
¹⁶ Treuman Katz Center for Pediatric Bioethics, Seattle Children's Hospital, Department of Pediatrics, University of Washington, Seattle, Washington, USA.
¹⁷ Department of Bioethics and Humanities, University of Washington, Seattle, Washington, USA.

PMID: 28858330
PMCID: PMC5832495
DOI: 10.1038/gim.2017.137

Navigating the research-clinical interface in genomic medicine: analysis from the CSER Consortium

Susan M Wolf et al. Genet Med. 2018 Apr.

. 2018 Apr;20(5):545-553.

doi: 10.1038/gim.2017.137. Epub 2017 Aug 31.

Authors

Affiliations

¹ Law School; Medical School; Consortium on Law and Values in Health, Environment & the Life Sciences, University of Minnesota, Minneapolis, Minnesota, USA.
² Medical Genetics, Department of Medicine, University of Washington, Seattle, Washington, USA.
³ Departments of Genetics and Medicine, University of North Carolina at Chapel Hill, Chapel Hill, North Carolina, USA.
⁴ Departments of Pediatrics and Medicine, Columbia University, New York, New York, USA.
⁵ Center for Biomedical Ethics and Society, Vanderbilt University Medical Center, Nashville, Tennessee, USA.
⁶ Genetics, Department of Medicine, Brigham and Women's Hospital, Broad Institute and Harvard Medical School, Boston, Massachusetts, USA.
⁷ Institute for Health and Aging, University of California-San Francisco; Division of Research, Kaiser Permanente Northern California, San Francisco, California, USA.
⁸ Department of Social Medicine, University of North Carolina at Chapel Hill, Chapel Hill, North Carolina, USA.
⁹ Department of Genome Sciences, University of Washington, Seattle, Washington, USA.
¹⁰ Program in Bioethics, Institute for Health and Aging, University of California-San Francisco, San Francisco, California, USA.
¹¹ Veterans Administration National Center for Ethics in Health Care, Washington, DC, USA.
¹² Harvard University, Cambridge, Massachusetts, USA.
¹³ Center for Medical Ethics and Health Policy, Baylor College of Medicine, Houston, Texas, USA.
¹⁴ Human Research Affairs, Partners HealthCare, Boston, Massachusetts, USA.
¹⁵ Division of Research, Kaiser Permanente Northern California, Oakland, California, USA.
¹⁶ Treuman Katz Center for Pediatric Bioethics, Seattle Children's Hospital, Department of Pediatrics, University of Washington, Seattle, Washington, USA.
¹⁷ Department of Bioethics and Humanities, University of Washington, Seattle, Washington, USA.

PMID: 28858330
PMCID: PMC5832495
DOI: 10.1038/gim.2017.137

Abstract

PurposeThe Clinical Sequencing Exploratory Research (CSER) Consortium encompasses nine National Institutes of Health-funded U-award projects investigating translation of genomic sequencing into clinical care. Previous literature has distinguished norms and rules governing research versus clinical care. This is the first study to explore how genomics investigators describe and navigate the research-clinical interface.MethodsA CSER working group developed a 22-item survey. All nine U-award projects participated. Descriptive data were tabulated and qualitative analysis of text responses identified themes and characterizations of the research-clinical interface.ResultsSurvey responses described how studies approached the research-clinical interface, including in consent practices, recording results, and using a research versus clinical laboratory. Responses revealed four characterizations of the interface: clear separation between research and clinical care, interdigitation of the two with steps to maintain separation, a dynamic interface, and merging of the two. All survey respondents utilized at least two different characterizations. Although research has traditionally been differentiated from clinical care, respondents pointed to factors blurring the distinction and strategies to differentiate the domains.ConclusionThese results illustrate the difficulty in applying the traditional bifurcation of research versus clinical care to translational models of clinical research, including in genomics. Our results suggest new directions for ethics and oversight.

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Conflict of interest statement

Robert Green receives compensation for speaking or consultation to AIA, GenePeeks, Helix, Illumina, Ohana, Prudential, and Veritas, and is co-founder and advisor to Genome Medical, Inc. Pearl O’Rourke is on a Bioethics Advisory Committee for Takeda.

References

1. Wolf SM, Burke W, Koenig BA. Mapping the ethics of translational genomics: situating return of results and navigating the research–clinical divide. J Law Med Ethics 2015;43:486–501. - PMC - PubMed
1. Green RC, Goddard KAB, Jarvik GP et al. The Clinical Sequencing Exploratory Research Consortium: accelerating the evidence-based practice of genomic medicine. Am J Hum Genet 2016;98:1051–1066. - PMC - PubMed
1. National Institutes of Health. RFA-HG-10-017: Clinical Sequencing Exploratory Research (U01). https://grants.nih.gov/grants/guide/rfa-files/RFA-HG-10-017.html. Accessed 12 March 2017.
1. Berg J, Amendola LM, Eng C et al. Processes and preliminary outputs for identification of actionable genes as incidental findings in genomic sequence data in the Clinical Sequencing Exploratory Research Consortium. Genet Med 2013;15:860–867. - PMC - PubMed
1. Henderson GE, Wolf SM, Kuczynski KJ et al. The challenge of informed consent and return of results in translational genomics: empirical analysis and recommendations. J Law Med Ethics 2014;42:344–355. - PMC - PubMed

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Navigating the research-clinical interface in genomic medicine: analysis from the CSER Consortium

Affiliations

Navigating the research-clinical interface in genomic medicine: analysis from the CSER Consortium

Authors

Affiliations

Abstract

Conflict of interest statement

References

Publication types

MeSH terms

Grants and funding

LinkOut - more resources

Full Text Sources

Other Literature Sources