Mind the gap: how multiracial individuals get left behind when we talk about race, ethnicity, and ancestry in genomic research

TL;DR

This paper highlights the underrepresentation of multiracial individuals in genomic research, critiques current categorical frameworks, and proposes solutions to improve inclusivity and benefit for all populations.

Contribution

It critically examines how current genomic research practices exclude multiracial individuals and offers concrete recommendations for more inclusive terminology and methodologies.

Findings

Current practices fail multiracial individuals due to categorical limitations.

Existing ontologies perpetuate exclusion by normalizing racial categories.

Proposed solutions aim to improve inclusivity in genomic research.

Abstract

It is widely acknowledged that there is a diversity problem in genomics stemming from the vast underrepresentation of non-European genetic ancestry populations. While many challenges exist to address this gap, a major complicating factor is the misalignment between (1) how society defines and labels individuals; (2) how populations are defined for research; and (3) how research findings are translated to benefit human health. Recent conversations to address the lack of clarity in terminology in genomics have largely focused on ontologies that acknowledge the difference between genetic ancestry and race. Yet, these ontological frameworks for ancestry often follow the subjective discretization of people, normalized by historical racial categories; this perpetuates exclusion at the expense of inclusion. In order to make the benefits of genomics research accessible to all, standards around race, ethnicity, and genetic ancestry must deliberately and explicitly address multiracial, genetically admixed individuals who make salient the limitations of discrete categorization in genomics and society. Starting with the need to clarify terminology, we outline current practices in genomic research and translation that fail those who are 'binned' for failing to fit into a specific bin. We conclude by offering concrete solutions for future research in order to share the benefits of genomics research with the full human population.