Clinical Genetics Lacks Standard Definitions and Protocols for the Collection and Use of Diversity Measures.

ABSTRACT: Genetics researchers and clinical professionals rely on diversity measures such as race, ethnicity, and ancestry (REA) to stratify study participants and patients for a variety of applications in research and precision medicine. However, there are no comprehensive, widely accepted standards or guidelines for collecting and using such data in clinical genetics practice. Two NIH-funded research consortia, the Clinical Genome Resource (ClinGen) and Clinical Sequencing Evidence-generating Research (CSER), have partnered to address this issue and report how REA are currently collected, conceptualized, and used. Surveying clinical genetics professionals and researchers (n = 448), we found heterogeneity in the way REA are perceived, defined, and measured, with variation in the perceived importanc

SUBMITTER: Popejoy AB 

PROVIDER: S-EPMC7332657 | biostudies-literature | 2020 Jul

REPOSITORIES: biostudies-literature