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

Susan M. Wolf; Laura M. Amendola; Jonathan S. Berg; Wendy K. Chung; Ellen Wright Clayton; Robert C. Green; Julie Harris-Wai; Gail E. Henderson; Gail P. Jarvik; Barbara A. Koenig; Lisa Soleymani Lehmann; Amy L. McGuire; Pearl O'Rourke; Carol Somkin; Benjamin S. Wilfond; Wylie Burke

doi:10.1038/gim.2017.137

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

Susan M. Wolf, Laura M. Amendola, Jonathan S. Berg, Wendy K. Chung, Ellen Wright Clayton, Robert C. Green, Julie Harris-Wai, Gail E. Henderson, Gail P. Jarvik, Barbara A. Koenig, Lisa Soleymani Lehmann, Amy L. McGuire, Pearl O'Rourke, Carol Somkin, Benjamin S. Wilfond, Wylie Burke

Academics (Law)

Research output: Contribution to journal › Article › peer-review

27 Scopus citations

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.

Original language	English (US)
Pages (from-to)	545-553
Number of pages	9
Journal	Genetics in Medicine
Volume	20
Issue number	5
DOIs	https://doi.org/10.1038/gim.2017.137
State	Published - Apr 1 2018

Bibliographical note

Funding Information:
Preparation of this article was supported by the following grants from the National Institutes of Health (NIH): U01HG006507, U01H007307, R01CA154517, R01HG008605, R01HG006600, R21HG00612, U01HG006487, P20HG007243, U01HG006485, and U01HG006500. This research was also supported by the Actionability and Return of Results Working Group of the Clinical Sequencing Exploratory Research (CSER) Consortium, which is funded by the National Human Genome Research Institute (NHGRI) and National Cancer Institute (NCI). Thanks to Jeffrey Ou for assistance in compiling data and to Laura Rodriguez for helpful comments. The views expressed in this article are those of the authors and do not necessarily reflect those of the NIH, NHGRI, NCI, or the CSER Consortium.

Publisher Copyright:
© American College of Medical Genetics and Genomics.

Keywords

exome sequencing
genome sequencing
research ethics
translational ethics
translational genomics

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Wolf, S. M., Amendola, L. M., Berg, J. S., Chung, W. K., Clayton, E. W., Green, R. C., Harris-Wai, J., Henderson, G. E., Jarvik, G. P., Koenig, B. A., Lehmann, L. S., McGuire, A. L., O'Rourke, P., Somkin, C., Wilfond, B. S., & Burke, W. (2018). Navigating the research-clinical interface in genomic medicine: Analysis from the CSER Consortium. Genetics in Medicine, 20(5), 545-553. https://doi.org/10.1038/gim.2017.137

Wolf, SM, Amendola, LM, Berg, JS, Chung, WK, Clayton, EW, Green, RC, Harris-Wai, J, Henderson, GE, Jarvik, GP, Koenig, BA, Lehmann, LS, McGuire, AL, O'Rourke, P, Somkin, C, Wilfond, BS & Burke, W 2018, 'Navigating the research-clinical interface in genomic medicine: Analysis from the CSER Consortium', Genetics in Medicine, vol. 20, no. 5, pp. 545-553. https://doi.org/10.1038/gim.2017.137

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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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author = "Wolf, {Susan M.} and Amendola, {Laura M.} and Berg, {Jonathan S.} and Chung, {Wendy K.} and Clayton, {Ellen Wright} and Green, {Robert C.} and Julie Harris-Wai and Henderson, {Gail E.} and Jarvik, {Gail P.} and Koenig, {Barbara A.} and Lehmann, {Lisa Soleymani} and McGuire, {Amy L.} and Pearl O'Rourke and Carol Somkin and Wilfond, {Benjamin S.} and Wylie Burke",

note = "Funding Information: Preparation of this article was supported by the following grants from the National Institutes of Health (NIH): U01HG006507, U01H007307, R01CA154517, R01HG008605, R01HG006600, R21HG00612, U01HG006487, P20HG007243, U01HG006485, and U01HG006500. This research was also supported by the Actionability and Return of Results Working Group of the Clinical Sequencing Exploratory Research (CSER) Consortium, which is funded by the National Human Genome Research Institute (NHGRI) and National Cancer Institute (NCI). Thanks to Jeffrey Ou for assistance in compiling data and to Laura Rodriguez for helpful comments. The views expressed in this article are those of the authors and do not necessarily reflect those of the NIH, NHGRI, NCI, or the CSER Consortium. Publisher Copyright: {\textcopyright} American College of Medical Genetics and Genomics.",

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AU - Henderson, Gail E.

AU - Jarvik, Gail P.

AU - Koenig, Barbara A.

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AU - O'Rourke, Pearl

AU - Somkin, Carol

AU - Wilfond, Benjamin S.

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N2 - 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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Navigating the research-clinical interface in genomic medicine: Analysis from the CSER Consortium

Abstract

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Keywords

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