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

Research output: Contribution to journalArticlepeer-review

15 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 languageEnglish (US)
Pages (from-to)545-553
Number of pages9
JournalGenetics in Medicine
Volume20
Issue number5
DOIs
StatePublished - 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.

Keywords

  • exome sequencing
  • genome sequencing
  • research ethics
  • translational ethics
  • translational genomics

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