Table 1 Recommendations from our analysis for moving beyond frameworks based on race, in population-based genetic studies

Study framework and design

 Consider study designs and groupings that do not rely on race/ethnicity; for example, genotype, disease subtype corrected for genetic ancestry etc., as appropriate to the research question.

 Do not use race/ethnicity as an explanation for biological outcomes; endeavour to identify the ultimate determinants—genetic, environmental, behavioural etc—of the complex disease or trait in question.

 Design inter-disciplinary studies to investigate the full-spectrum of determinants of complex phenotype— environmental, behavioural and genetic- and the interactions among them.

 Where applicable, extend the breadth and depth of human genomic variation studies, encompassing systematic sampling across socio-political boundaries, within and across socially-identified groups.

Research interpretation, communication and follow-up

 Avoid objectifying race/ethnicity in interpreting admixture mapping and other population-based studies. For example, in reporting admixture mapping make it clear that the detected risk alleles occur across ‘racial’/ethnic boundaries; and emphasize that population history, rather than genetic differences between groups, is being used to localize variants more efficiently.

 Critically examine assumptions about race and ethnicity, including both overt and implicit messages, when designing, interpreting and communicating studies.

 Take into account historical and socio-cultural perspectives on human difference/race/ethnicity.

 Provide a population history and bio-geographic ancestry-based framework for population-based genetic studies.

 Conduct follow-up studies in multiple populations to validate results from population-specific investigations, and to fully understand how the variant(s) influence the complex trait in question.

Education, training and outreach

 Include on research teams individuals with expertise in (1) historical and socio-cultural perspectives on human difference/race/ethnicity; (2) effective engagement of non-scientist audiences.

 Promote the social awareness of geneticists and the media, and greater engagement between these groups.

 Encourage the genetic literacy of research communities and the public—with relevant stakeholders including social scientists, bioethicists, the media, and the public themselves involved, in addition to geneticists.

 Create opportunities for open public discourse about the nature of human genomic variation, social identity and health disparities.