Genetic Testing

Approximately 600 genetic tests are currently available for clinical testing and most are used for diagnosis of rare single-gene disorders or chromosome abnormalities, with a few being used for newborn screening. However, a growing number of genetic tests may have population-based applications, which includes determining the risk of developing a disease or condition in the future (e.g., predictive testing for breast cancer or cardiovascular disease), and recognizing genetic variations that can influence response to medicines (pharmacogenomics).