Recommendations on the use and reporting of race, ethnicity, and ancestry in the NHLBI Trans-Omics for Precision Medicine (TOPMed) program
Recommendations on the use and reporting of race, ethnicity, and ancestry in genetic research: experiences from the NHLBI Trans-Omics for Precision Medicine (TOPMed) program is now published as a preprint (PDF | abstract) on arxiv.
Box I. Summary of recommendations on the use and reporting of race, ethnicity, and ancestry in genomics research.
- Explicitly distinguish between variables that derive from non-genetic, reported information versus genetically inferred information.
- Avoid using terms that are historically linked to hierarchical, racial typologies.
- Follow standards from publishers, including the APA’s guidelines on bias-free language regarding racial and ethnic identity and the AMA Manual of Style (see Flanagin et al. 2021).
- Harmonization of race and ethnicity across studies
- Clearly describe the source data from each study when using harmonized race and ethnicity variables.
- Avoid assuming that non-genetic, reported variables are by “self-report.”
- Avoid applying US race categories to participants of studies based outside of the US.
- Consult study documentation or ask study representatives how their study participants prefer to be described.
- Genetic Ancestry
- Avoid using reported race or ethnicity as a proxy for genetic ancestry, or using genetic ancestry to represent race or ethnicity.
- Avoid reinforcing the idea that race and ethnicity are genetic concepts when presenting genetically derived data.
- Articulate and justify why variables were used in a given analysis.
- Keep in mind that, if using race or ethnicity as a covariate, these variables may explain trait variation due to social factors, not genetics.
- Focus attention on pooled- or meta-analysis results of all participants.
- Consider potential benefits versus potential harms when thinking about whether and how to conduct a population-specific analysis.
- Acknowledge the broader social context of health and healthcare disparities when invoking these disparities as a justification for genomic research.
- Consult with study investigators or study-provided documentation about any preferences or study-specific reporting guidelines.
- Avoid generalizing from a single population to represent another, broader population.