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Cold Spring Harb Perspect Med. 2014 Jul 24;4(9):a008581. doi: 10.1101/cshperspect.a008581.

Personalized medicine and human genetic diversity.

Author information

Center for Human Genome Variation, Duke University, Durham, North Carolina 27708.
Institute for Genome Sciences and Policy, Duke University, Durham, North Carolina 27708.
Molecular and Cellular Therapeutics, Royal College of Surgeons, Dublin 4, Ireland.


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.

[Indexed for MEDLINE]
Free PMC Article

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