Single-gene testing is a common practice when a doctor suspects that a person or their child has symptoms of a specific condition or syndrome, such as Duchene muscular dystrophy or sickle cell disease. It is also used when there is a known genetic mutation in a family.
Genetic testingis used to detect changes in a person's genes, which can cause genetic diseases (also called genetic disorders) or increase the chance of certain medical problems (such as some types of cancer). The results of genetic testing can provide important information for diagnosing, treating and preventing diseases, and can help people make informed decisions about managing their health care.
For instance, a negative result may eliminate the need for unnecessary checkups and screenings in some cases. A positive result can guide a person toward available prevention, monitoring, and treatment options. Newborn screening can identify genetic disorders early in life, so that treatment can be started as soon as possible. Despite the advantages of genetic testing, there are some limitations to consider.
People may not be provided with the important context about the test results that a genetic counselor could provide. In addition, genetic testing at home should not be done in place of cancer screening or genetic counseling that may be recommended by a medical professional based on an individual's risk of developing cancer. Before having a genetic test, it is essential to discuss all the risks and benefits with your doctor, a medical geneticist, or a genetic counselor. If you are being tested for an inherited genetic disorder, you might consider talking to your family about your decision to have genetic testing.
Regardless of the results of the test, it is important to talk to your doctor, medical geneticist, or genetic counselor about any questions or concerns you may have.