The Missing Diversity in Human Genetic Studies

Giorgio Sirugo; Scott M Williams; Sarah A Tishkoff

doi:10.1016/j.cell.2019.02.048

The Missing Diversity in Human Genetic Studies

Cell. 2019 Mar 21;177(1):26-31. doi: 10.1016/j.cell.2019.02.048.

Authors

Giorgio Sirugo¹, Scott M Williams², Sarah A Tishkoff³

Affiliations

¹ Department of Systems Pharmacology and Translational Therapeutics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA; Division of Translational Medicine and Human Genetics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA. Electronic address: giorgio.sirugo@pennmedicine.upenn.edu.
² Departments of Population and Quantitative Health Sciences, and Genetics and Genome Sciences, Cleveland Institute for Computational Biology, Case Western Reserve University, Cleveland, OH 44106, USA. Electronic address: smw154@case.edu.
³ Department of Genetics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA; Department of Biology, School of Arts and Sciences, University of Pennsylvania, Philadelphia, PA 19104, USA. Electronic address: tishkoff@pennmedicine.upenn.edu.

Abstract

The majority of studies of genetic association with disease have been performed in Europeans. This European bias has important implications for risk prediction of diseases across global populations. In this commentary, we justify the need to study more diverse populations using both empirical examples and theoretical reasoning.

Publication types

Research Support, N.I.H., Extramural
Research Support, Non-U.S. Gov't

MeSH terms

Genetic Association Studies / methods*
Genetic Predisposition to Disease / genetics
Genetic Techniques
Genetic Variation / genetics
Genetics / trends
Human Genetics / methods
Humans
Polymorphism, Single Nucleotide / genetics
Racial Groups / genetics*
Risk Factors
Selection Bias*

Abstract

Publication types

MeSH terms

Grants and funding