Why genetic testing
Genetic tests are the most sophisticated medical tests used to identify changes in genes by various laboratory techniques. Genetic tests are usually used to detect changes associated with some types of inherited disorders. The results of a genetic test can confirm or rule out a suspected genetic condition or help determine a person’s chance of developing a genetic disorder in the future.
Genetic testing may have several purposes:
>> Confirming the diagnosis of a symptomatic individual
>> Testing for genetic diseases in adults before they cause symptoms
>> Carrier screening, which involves identifying unaffected individuals who carry one copy of a gene for a disease that requires two copies for the disease to be expressed
>> Finding out if a person carries a genetic marker of the disease and may pass it on to offspring
>> Finding possible genetic diseases in unborn babies
>> Screening embryos for disease
>> In some occasions, helping to choose the most effective drug and its optimal dose for a patient
Genetic testing has already been used for several years and it has improved medical healthcare. For example, these tests can be used to confirm a diagnosis and direct a physician toward the most appropriate treatments. Frequent monitoring and removal of colon polyps in those who have inherited a gene for familial adenomatous polyposis, for example, has saved many lives. Genetic tests also allow families to avoid having children with very severe and devastating genetic diseases or identify people at high risk for conditions that may be preventable, such as venous thrombosis.
Genetic testing holds great potential for the future of medical care.