Genetic testing is a medical evaluation that helps identify mutations and abnormalities in genes, chromosomes, or some proteins to help assess a person’s risks of developing certain types of diseases and medical conditions. Based on the results of genetic testing, the providers at Bellevue Family Medicine can provide care and medical guidance to reduce a person’s chances of developing some types of diseases, and she can also provide counseling to help patients understand the implications of their results. Genetic testing is also used during pregnancy and family planning to help determine the likelihood of passing on a genetic anomaly to a child.
Genetic tests use a sample of the patient’s:
Some tests can be performed using a cheek swab that collects some of the patient’s cheek cells for evaluation. Different tests require different types of samples. Once the sample is obtained, it’s sent to a special lab that has the equipment necessary to perform the often complex processes associated with genetic testing.
The tests will look for changes in:
Then the results are compared with large databases of medical and genetic information to match any irregularities with medical and health issues known to be associated with those abnormalities.
Genetic test results are usually positive or negative. A positive result means that lab testing uncovered a change or abnormality in a gene, chromosome, or protein, while a negative result means no change was found. While test results can be used to confirm some diagnoses -- especially in people with a history of inherited conditions -- the results are not necessarily definitive; that is, a “positive” result does not necessarily mean a specific condition will develop.
However, the results can play a role in preventive care, helping the providers at Bellevue Family Medicine provide more targeted, patient-centered care and guidance to help optimize a patient’s health. They can also be very helpful in newborns, enabling parents to be proactive in their child’s medical care in addition to helping them understand potential risks their child may face, especially when one or both parents have a genetic condition.
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