Recommendations on the use and reporting of race, ethnicity, and ancestry

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.

1. Terminology
   1. Explicitly distinguish between variables that derive from non-genetic, reported information versus genetically inferred information.
   2. Avoid using terms that are historically linked to hierarchical, racial typologies. 
   3. 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).
       
2. Harmonization of race and ethnicity across studies
   1. Clearly describe the source data from each study when using harmonized race and ethnicity variables.
   2. Avoid assuming that non-genetic, reported variables are by “self-report.” 
   3. Avoid applying US race categories to participants of studies based outside of the US.
   4. Consult study documentation or ask study representatives how their study participants prefer to be described.
       
3. Genetic Ancestry
   1. Avoid using reported race or ethnicity as a proxy for genetic ancestry, or using genetic ancestry to represent race or ethnicity.
   2. Avoid reinforcing the idea that race and ethnicity are genetic concepts when presenting genetically derived data.
       
4. Analysis
   1. Articulate and justify why variables were used in a given analysis.
   2. Keep in mind that, if using race or ethnicity as a covariate, these variables may explain trait variation due to social factors, not genetics.
   3. Focus attention on pooled- or meta-analysis results of all participants.
   4. Consider potential benefits versus potential harms when thinking about whether and how to conduct a population-specific analysis.
       
5. Reporting
   1. Acknowledge the broader social context of health and healthcare disparities when invoking these disparities as a justification for genomic research. 
   2. Consult with study investigators or study-provided documentation about any preferences or study-specific reporting guidelines.
   3. Avoid generalizing from a single population to represent another, broader population.