Prioritizing diversity in human genomics research

Hindorff, Lucia A.; Bonham, Vence L.; Brody, Lawrence C.; Ginoza, Margaret E. C.; Hutter, Carolyn M.; Manolio, Teri A.; Green, Eric D.

doi:10.1038/nrg.2017.89

Cited by 386Race, Genetics, and SocietyEthics in Clinical ResearchGenetic Associations and Epidemiology

Prioritizing diversity in human genomics research

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Hindorff, Lucia A., Bonham, Vence L., Brody, Lawrence C., Ginoza, Margaret E. C., Hutter, Carolyn M., Manolio, Teri A., Green, Eric D.·2018·Nature Reviews Genetics

DOI 10.1038/nrg.2017.89PMC PMC6532668

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Abstract

Recent studies have highlighted the imperatives of including diverse and under-represented individuals in human genomics research and the striking gaps in attaining that inclusion. With its multidecade experience in supporting research and policy efforts in human genomics, the National Human Genome Research Institute is committed to establishing foundational approaches to study the role of genomic variation in health and disease that include diverse populations. Large-scale efforts to understand biology and health have yielded key scientific findings, lessons and recommendations on how to increase diversity in genomic research studies and the genomic research workforce. Increased attention to diversity will increase the accuracy, utility and acceptability of using genomic information for clinical care.

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Assessments of PRS across diverse populations are becoming increasingly feasible with the growth and public availability of global biobanks as well as diversifying priorities from funding agencies.
“These assessments are becoming increasingly feasible with the growth and public availability of global bio banks as well as diversifying priorities from funding agencies55,56.”
From Clinical use of current polygenic risk scores may exacerbate health disparities (2019) · cites this paper as [56]
The sections on foundational genomic data resources and dedicated funding support describe expanding diverse reference datasets, benefits of publicly accessible reference populations, and funding programmes that prioritize diversity (page numbers unavailable). They do not specifically establish that global biobanks are growing and publicly available, or that these developments are making assessments of polygenic risk scores across populations increasingly feasible. (LLM, conf=0.83)
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Authors: Hindorff, L. A., Bonham, V. L., Brody, L. C., Ginoza, M. E. C., Hutter, C. M., Manolio, T. A., & Green, E. D.
Affiliations: National Institutes of Health (US)
Corresponding author: Hindorff, Lucia A.
ORCID: Hindorff, Lucia A.
Bonham, Vence L.
Brody, Lawrence C.
Ginoza, Margaret E. C.
Manolio, Teri A.
Green, Eric D.
Venue: Nature Reviews Genetics
Publisher: Springer Science and Business Media LLC
Published: 2017-11-20
Volume: 19
Issue: 3
Pages: 175-185
ISSN: 1471-0056 (ISSN-L)
1471-0064
DOI: 10.1038/nrg.2017.89
PMC: PMC6532668
OpenAlex: W2769205163
Cited by: 386
References: 84
Citations by year: 2026: 33 · 2025: 30 · 2024: 37 · 2023: 43 · 2022: 67 · 2021: 57 · 2020: 42 · 2019: 52 · 2018: 25
FWCI: 4.17
Type: journal article
Language: en
Open access: green
www.ncbi.nlm.nih.gov
Licence: www.springer.com/tdm (tdm)
Locations: Nature Reviews Genetics (publishedVersion)
PubMed (publishedVersion)
PubMed Central (acceptedVersion)
Funders: National Institutes of Health (Z99 HG999999, Z99 CA999999)
National Human Genome Research Institute
Topics: Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Race, Genetics, and Society
Health Sciences › Medicine › Public Health, Environmental and Occupational Health › Ethics in Clinical Research
Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic Associations and Epidemiology
Keywords: underrepresented groups, clinical genomics, research inclusion, National Human Genome Research Institute
MeSH terms: Human Genetics, Humans, Genetic Variation, Genome, Human, Genomics, Precision Medicine

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