TY - JOUR
T1 - Importance of Genetic Studies of Cardiometabolic Disease in Diverse Populations
AU - Fernández-Rhodes, Lindsay
AU - Young, Kristin L.
AU - Lilly, Adam G.
AU - Raffield, Laura M.
AU - Highland, Heather M.
AU - Wojcik, Genevieve L.
AU - Agler, Cary
AU - Love, Shelly Ann M.
AU - Okello, Samson
AU - Petty, Lauren E.
AU - Graff, Mariaelisa
AU - Below, Jennifer E.
AU - Divaris, Kimon
AU - North, Kari E.
N1 - Publisher Copyright:
© 2020 Lippincott Williams and Wilkins. All rights reserved.
PY - 2020/6/5
Y1 - 2020/6/5
N2 - Genome-wide association studies have revolutionized our understanding of the genetic underpinnings of cardiometabolic disease. Yet, the inadequate representation of individuals of diverse ancestral backgrounds in these studies may undercut their ultimate potential for both public health and precision medicine. The goal of this review is to describe the imperativeness of studying the populations who are most affected by cardiometabolic disease, to the aim of better understanding the genetic underpinnings of the disease. We support this premise by describing the current variation in the global burden of cardiometabolic disease and emphasize the importance of building a globally and ancestrally representative genetics evidence base for the identification of population-specific variants, fine-mapping, and polygenic risk score estimation. We discuss the important ethical, legal, and social implications of increasing ancestral diversity in genetic studies of cardiometabolic disease and the challenges that arise from the (1) lack of diversity in current reference populations and available analytic samples and the (2) unequal generation of health-associated genomic data and their prediction accuracies. Despite these challenges, we conclude that additional, unprecedented opportunities lie ahead for public health genomics and the realization of precision medicine, provided that the gap in diversity can be systematically addressed. Achieving this goal will require concerted efforts by social, academic, professional and regulatory stakeholders and communities, and these efforts must be based on principles of equity and social justice.
AB - Genome-wide association studies have revolutionized our understanding of the genetic underpinnings of cardiometabolic disease. Yet, the inadequate representation of individuals of diverse ancestral backgrounds in these studies may undercut their ultimate potential for both public health and precision medicine. The goal of this review is to describe the imperativeness of studying the populations who are most affected by cardiometabolic disease, to the aim of better understanding the genetic underpinnings of the disease. We support this premise by describing the current variation in the global burden of cardiometabolic disease and emphasize the importance of building a globally and ancestrally representative genetics evidence base for the identification of population-specific variants, fine-mapping, and polygenic risk score estimation. We discuss the important ethical, legal, and social implications of increasing ancestral diversity in genetic studies of cardiometabolic disease and the challenges that arise from the (1) lack of diversity in current reference populations and available analytic samples and the (2) unequal generation of health-associated genomic data and their prediction accuracies. Despite these challenges, we conclude that additional, unprecedented opportunities lie ahead for public health genomics and the realization of precision medicine, provided that the gap in diversity can be systematically addressed. Achieving this goal will require concerted efforts by social, academic, professional and regulatory stakeholders and communities, and these efforts must be based on principles of equity and social justice.
KW - cardiovascular diseases
KW - genomics
KW - global burden of disease
KW - metabolic diseases
KW - minority health
KW - precision medicine
KW - social justice
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UR - http://www.scopus.com/inward/citedby.url?scp=85086008298&partnerID=8YFLogxK
U2 - 10.1161/CIRCRESAHA.120.315893
DO - 10.1161/CIRCRESAHA.120.315893
M3 - Review article
C2 - 32496918
AN - SCOPUS:85086008298
SN - 0009-7330
VL - 126
SP - 1816
EP - 1840
JO - Circulation research
JF - Circulation research
IS - 12
ER -