Identifying Opportunities to Improve Health and Transform Healthcare with Genetic Testing

Genetic tests have been developed for thousands of diseases. Most tests look at single genes and are used to diagnose rare genetic disorders, such as Fragile X Syndrome and Duchenne Muscular Dystrophy. In addition, some genetic tests look at rare inherited mutations of otherwise protective genes, such as BRCA1 and BRCA2, which are responsible for some hereditary breast and ovarian cancers.  However, a growing number of tests are being developed to look at multiple genes that may increase or decrease a person’s risk of common diseases, such as cancer or diabetes. Such tests and other applications of genomic technologies have the potential to help prevent common disease and improve the health of individuals and populations. For example, predictive gene tests may be used to help determine the risk of developing common diseases, and pharmacogenetic tests may be used to help identify genetic variations that can influence a person’s response to medicines

The Office of Public Health Genomics developed a three-tiered framework for classifying genomic testing and family health history applications based on the availability of scientific evidence and evidence-based recommendations supporting their use.

View the full genetic testing factsheet here: http://www.cdc.gov/genomics/gtesting/file/print/EGAPP_factsheet.pdf

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