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Updated: Jul 15, 2025

Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry
Published on: June 21, 2018
Conflating race and ancestry: Tracing decision points about population descriptors over the precision medicine
Michael Bentz1, Aliya Saperstein2, Stephanie M Fullerton3
1Division of Ethics, Department of Medical Humanities and Ethics, Vagelos College of Physicians & Surgeons, Columbia University, 630 West 168th Street, PH 1525, New York, NY 10032, USA.
Abstract:
Responding to calls for human genomics to shift away from the use of race, genomic investigators are coalescing around the possibility of using genetic ancestry. This shift has renewed questions about the use of social and genetic concepts of difference in precision medicine research (PMR). Drawing from qualitative data on five PMR projects, we illustrate negotiations within and between research teams as genomic investigators deliberate on the relevance of race and genetic ancestry for different analyses and contexts. We highlight how concepts of both social and genetic difference are embedded within and travel through research practices, and identify multiple points across the research life course at which conceptual slippage and conflation between race and genetic ancestry occur. We argue that moving beyond race will require PMR investigators to confront the entrenched ways in which race is built into research practices and biomedical infrastructures.
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