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Review
. 2024 Sep 30;9(1):45.
doi: 10.1038/s41525-024-00428-6.

Native Hawaiian and Pacific Islander populations in genomic research

Edra K Ha  1   2   3 , Daniel Shriner  1 , Shawneequa L Callier  1   4 , Lorinda Riley  2 , Adebowale A Adeyemo  1 , Charles N Rotimi  1 , Amy R Bentley  5
Affiliations
Review

Native Hawaiian and Pacific Islander populations in genomic research

Edra K Ha et al. NPJ Genom Med. .

Abstract

The role of genomic research and medicine in improving health continues to grow significantly, highlighting the need for increased equitable inclusion of diverse populations in genomics. Native Hawaiian and Pacific Islander (NHPI) communities are often missing from these efforts to ensure that the benefits of genomics are accessible to all individuals. In this article, we analyze the qualities of NHPI populations relevant to their inclusion in genomic research and investigate their current representation using data from the genome-wide association studies (GWAS) catalog. A discussion of the barriers NHPI experience regarding participating in research and recommendations to improve NHPI representation in genomic research are also included.

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Conflict of interest statement

Charles Rotimi is a member of the Editorial Board of npj Genomic Medicine and had no role in the peer-review or decision to publish this manuscript. Otherwise, the authors declare no competing interests.

Figures

Fig. 1
Fig. 1. ADMIXTURE clustering of Native Hawaiians.
Admixture clustering of Native Hawaiians and HGDP samples. Native Hawaiian ancestry labels, such as HawaiianAsian50, were calculated based on the individual’s report of their parents’ ancestral backgrounds and denote individuals as having 50% Native Hawaiian and 50% Asian ancestry, i.e., one parent with solely Native Hawaiian ancestry and one parent of Asian descent. K refers to a pre-determined number of sub-populations set by the study’s authors, and the colors assigned to these groups were determined through an automated process performed by the ADMIXTURE software program. Panel a demonstrates how individuals who self-identify as having NHPI ancestry group separately from other ancestry groups when an analysis is performed with five sub-populations. Panel b illustrates how individuals who self-identify as having Native Hawaiian ancestry group separately from other Pacific Islander ancestry groups such as Papuans and Melanesians when analysis is performed with six sub-populations. Reproduced from Kim et al., PLoS ONE, 2012 (CC-BY-4.0-https://creativecommons.org/licenses/by/4.0/).
Fig. 2
Fig. 2. Principal Component (PC) and ADMIXTURE analyses of the ancient Guam samples merged with Human Origins Array data for modern and ancient samples.
a Plot of the first two PCs. Ancient samples are projected. b ADMIXTURE results for K = 9. Population names are color-coded as in the PC plot. Reproduced from Pugach et al., PNAS, 2021 (https://creativecommons.org/licenses/by-nc-nd/4.0/).
Fig. 3
Fig. 3. GWAS catalog search flow charts.
Flow charts describing the search process for studies that include NHPI participants and the calculation of the proportion of NHPI participants in the GWAS Catalog. The search terms used were “Hawaii,” “Hawaiian,” “Pacific Islander,” “Islander,” “Pacific,” “Oceania,” and “Oceanian.”.
Fig. 4
Fig. 4. Population descriptors used for NHPI in GWAS studies.
Pie chart depicting the percentage of NHPI participants in NHPI-including studies in the GWAS Catalog (n = 45) and the population descriptors used to describe NHPI populations.
See this image and copyright information in PMC

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