Special Constraints Relevant To Genetic Testing

Genetic tests are performed for diagnostic and/or prognostic purposes, prenatal diagnosis, newborn screening, determination of carrier status, and presymptomatic and predictive testing. A number of limitations must be considered when offering genetic testing. The first one is that a test might not detect all the possible mutations that could be present in particular gene that causes a disease. A single gene can have a host of different mutations. A negative result cannot completely assure that the person tested does not carry a mutation in a particular gene. At the same time, a positive test result might pose different risks for different people. In addition, another limitation of genetic testing is related to the complexity of how certain genetic diseases developed. This poses a challenge mostly for genetic testing for predictive purposes, because predictive testing cannot provide certain answers for everyone that might be at risk for a disease.

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