Genetic Testing
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Tests
Genetic testing is chosen based on what you want to find out: confirming a suspected hereditary disease, assessing the genetic risk of a certain disease, conducting prenatal screening, or determining if genetic variants might be important for drug selection. Therefore, different genetic tests are not interchangeable just based on the number of genes or variants they analyze.
Diagnostic test or risk test?
A diagnostic genetic test looks for a genetic change that might explain an already suspected disease or syndrome. A risk test usually shows a predisposition – an increased genetic risk does not necessarily mean that the disease will develop, as other genetic, environmental, and lifestyle factors are also important.
A pharmacogenetic test answers yet another question: it can provide information on how genetic variants are related to the action or metabolism of certain drugs. Such a result does not automatically mean that a medication should be started, stopped, or changed without a doctor's decision.
Why is result interpretation important?
A negative genetic test result does not always completely rule out a genetic cause, as each test has its own limits on the genes and variants analyzed. Sometimes a variant of unclear clinical significance is identified, whose association with the disease is not yet sufficiently clear.
If the test is conducted for hereditary disease, oncological risk, or if the result may be important for biological relatives, a consultation with a geneticist before the test or upon receiving the result is beneficial.
