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Genetic testing

Benjamin A Raby, MD, MPH
Wendy Kohlmann, MS, CGC
Vickie Venne, MS, CGC
Section Editor
Anne Slavotinek, MBBS, PhD
Deputy Editor
Jennifer S Tirnauer, MD


Genetic testing is becoming more important in allowing tailored interventions in "personalized" or "precision" medicine. Genetic conditions are responsible for over 35 percent of pediatric medical conditions. In adults, disease risk for common conditions is more likely to be related to a combination of multifactorial genetic and non-genetic factors.

Targeting genetic testing appropriately and understanding the limitations and challenges of available testing approaches are crucial to the successful use of genetics in improving health and quality of life. As primary care clinicians are more frequently asked about genetic testing, they can collaborate with colleagues to assure that genetic advances are applied usefully to patient care.

This topic reviews principles of genetic testing and provides general information about the use of genetic testing to evaluate patients for inherited conditions.

Additional discussions are provided on the following topics:

Genetic counseling – (See "Genetic counseling: Family history interpretation and risk assessment".)

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Literature review current through: Sep 2017. | This topic last updated: Oct 19, 2016.
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