Genetic testing is the use of a laboratory test to look for genetic variations associated with a disease. The results of a genetic test can be used to confirm or rule out a suspected genetic disease or to determine the likelihood of a person passing on a mutation to their offspring. Genetic testing may be performed prenatally or after birth. Ideally, a person who undergoes a genetic test will discuss the meaning of the test and its results with a genetic counselor.
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Genetic testing is laboratory testing that most often is conducted on a blood sample or maybe a cheek swab sample--that is, cells from the inside lining of your cheek--used to test for genetic variations that are associated with hereditary or genetic disease. So the results of a genetic test can be used to confirm or possibly rule out a suspected disease in an infected person. Alternatively, genetic testing can also be done to see if a person is at high risk for a disease that exists in their family. So, for hereditary conditions such as hereditary cancer syndromes or neurological disease... Genetic testing is possible at any point in life; during a pregnancy through adulthood. And ideally, anyone who undergoes genetic testing would have the opportunity to talk about the meaning of the test, the potential benefits and risks of having such a test done, with a genetics professional, well in advance of making a decision about whether they want to pursue a test or not.
Donald W. Hadley, M.S., C.G.C.
Associate Investigator, Social and Behavioral Research Branch, Public Health Genomics Section; Associate Director, Office of Clinical Liaison, Office of the Clinical Director
Mr. Hadley is a genetic counselor and a clinical researcher. As a genetic counselor, he provides education and counseling for people participating in NIH clinical protocols who have or at risk for inherited diseases. As a researcher, he evaluates methods for educating and counseling families with genetic conditions. His research is performed within the Public Health Genomics Section. Mr. Hadley strives to understand the psychological and behavioral outcomes of the counseling and testing process. His clinical role gives him insight into concerns of families considering genetic testing and the issues they deal with following their decisions.