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

Genet Med
Authors
Keywords
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.

Year of Publication
2018
Journal
Genet Med
Volume
20
Issue
5
Pages
545-553
Date Published
2018 04
ISSN
1530-0366
DOI
10.1038/gim.2017.137
PubMed ID
28858330
PubMed Central ID
PMC5832495
Links
Grant list
R01 HG006600 / HG / NHGRI NIH HHS / United States
P20 HG007243 / HG / NHGRI NIH HHS / United States
U01 HG007292 / HG / NHGRI NIH HHS / United States
U01 HG006507 / HG / NHGRI NIH HHS / United States
U01 HG006485 / HG / NHGRI NIH HHS / United States
U24 HG007307 / HG / NHGRI NIH HHS / United States
R01 HG008605 / HG / NHGRI NIH HHS / United States
UM1 HG007292 / HG / NHGRI NIH HHS / United States
R01 CA154517 / CA / NCI NIH HHS / United States
U01 HG006500 / HG / NHGRI NIH HHS / United States
U01 HG007307 / HG / NHGRI NIH HHS / United States
U01 HG006487 / HG / NHGRI NIH HHS / United States