Personalized medicine and human genetic diversity.
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.
Duke Scholars
Altmetric Attention Stats
Dimensions Citation Stats
Published In
DOI
EISSN
ISSN
Publication Date
Volume
Issue
Start / End Page
Related Subject Headings
- Precision Medicine
- Humans
- Genome-Wide Association Study
- Genetic Variation
- Genetic Predisposition to Disease
- Disease
- 3208 Medical physiology
- 3207 Medical microbiology
- 3205 Medical biochemistry and metabolomics
- 1116 Medical Physiology
Citation
Published In
DOI
EISSN
ISSN
Publication Date
Volume
Issue
Start / End Page
Related Subject Headings
- Precision Medicine
- Humans
- Genome-Wide Association Study
- Genetic Variation
- Genetic Predisposition to Disease
- Disease
- 3208 Medical physiology
- 3207 Medical microbiology
- 3205 Medical biochemistry and metabolomics
- 1116 Medical Physiology