Original Publication Date: >2 May, 2016
Publication / Source: Personalized Medicine
Authors: Zachary F Gerring & Dale R Nyholt
One of the major promises of genomics research is the ability to predict disease development and influence decisions about lifestyle choices or to tailor medical practice to an individual. Currently, clinicians use the family history of a patient in combination with general medical examinations and laboratory tests to help determine their risk of disease. Genetic tests are also available for diseases with highly penetrant mutations and may provide an accurate estimate of lifetime risk for individuals who carry them. However, it is not possible to perform single gene tests for most common complex diseases because susceptibility is driven by many genes and mutations, most of which have a small effect on disease risk. These small genetic risk factors can be identified using genome-wide association (GWA) studies, which test hundreds of thousands to millions of SNPs for an association with a disease outcome.