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What Are The Benefits Of Genetic Testing?

Your genetic test results may help you make more informed decisions with your healthcare provider about your health such as screening, risk-reducing surgeries, and prevention medication therapies. If a gene mutation is identified, blood relatives may choose to be tested to determine whether or not they share the same risks for hereditary cancers and diseases. If you get a positive result, you should discuss with your healthcare provider how hereditary diseases are inherited and learn about the likelihood that your children or blood relatives may have to inherit the same mutation(s) in the gene(s) tested. If you test negative for a known mutation in your family, then you cannot pass that mutation onto your children and you may be considered as having the same risk as a person in the general population.

    • For a lot of disorders, genetic testing is the only way to make an accurate diagnosis and help avoid additional unnecessary clinical investigations.
    • Genetic testing can guide the clinician in choosing the most suitable therapy and support for the patient.
    • A definite diagnosis can be a great relief to patients and families, especially if they have been searching for answers for a long time.
    • In some genetic diseases, increased surveillance and early intervention can save the patient’s life (e.g. early diagnosis of hereditary cancer).
    • The results of genetic testing may be useful for future family planning.

The accuracy of genetic test results is paramount. Major life decisions are often based on genetic test results. Therefore, genetic testing should only be performed by accredited, high-quality labs that regularly take part in external quality assurance schemes such as Genetics Institute of America. Our patient care involves post-test genetic counseling to explain the range of options and possible outcomes in order to obtain truly informed consent.