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A roadmap to increase diversity in genomic studies

Fatumo, S; Chikowore, T; Choudhury, A; Ayub, M; Martin, AR; Kuchenbaecker, K; (2022) A roadmap to increase diversity in genomic studies. Nature Medicine , 28 (2) pp. 243-250. 10.1038/s41591-021-01672-4. Green open access

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Abstract

Two decades ago, the sequence of the first human genome was published. Since then, advances in genome technologies have resulted in whole-genome sequencing and microarray-based genotyping of millions of human genomes. However, genetic and genomic studies are predominantly based on populations of European ancestry. As a result, the potential benefits of genomic research—including better understanding of disease etiology, early detection and diagnosis, rational drug design and improved clinical care—may elude the many underrepresented populations. Here, we describe factors that have contributed to the imbalance in representation of different populations and, leveraging our experiences in setting up genomic studies in diverse global populations, we propose a roadmap to enhancing inclusion and ensuring equal health benefits of genomics advances. Our Perspective highlights the importance of sincere, concerted global efforts toward genomic equity to ensure the benefits of genomic medicine are accessible to all.

Type: Article
Title: A roadmap to increase diversity in genomic studies
Location: United States
Open access status: An open access version is available from UCL Discovery
DOI: 10.1038/s41591-021-01672-4
Publisher version: https://doi.org/10.1038/s41591-021-01672-4
Language: English
Additional information: This version is the author accepted manuscript. For information on re-use, please refer to the publisher’s terms and conditions.
Keywords: Genomics, Research data
UCL classification: UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences > Division of Psychiatry
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences
UCL
URI: https://discovery.ucl.ac.uk/id/eprint/10144361
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