Personalized medicine and human genetic diversity.

Journal Article (Review;Journal Article)

Human genetic diversity has long been studied both to understand how genetic variation influences risk of disease and infer aspects of human evolutionary history. In this article, we review historical and contemporary views of human genetic diversity, the rare and common mutations implicated in human disease susceptibility, and the relevance of genetic diversity to personalized medicine. First, we describe the development of thought about diversity through the 20th century and through more modern studies including genome-wide association studies (GWAS) and next-generation sequencing. We introduce several examples, such as sickle cell anemia and Tay-Sachs disease that are caused by rare mutations and are more frequent in certain geographical populations, and common treatment responses that are caused by common variants, such as hepatitis C infection. We conclude with comments about the continued relevance of human genetic diversity in medical genetics and personalized medicine more generally.

Full Text

Duke Authors

Cited Authors

  • Lu, Y-F; Goldstein, DB; Angrist, M; Cavalleri, G

Published Date

  • July 2014

Published In

Volume / Issue

  • 4 / 9

Start / End Page

  • a008581 -

PubMed ID

  • 25059740

Pubmed Central ID

  • PMC4143101

Electronic International Standard Serial Number (EISSN)

  • 2157-1422

International Standard Serial Number (ISSN)

  • 2157-1422

Digital Object Identifier (DOI)

  • 10.1101/cshperspect.a008581


  • eng