Genetic testing is a powerful tool that can provide insight into a person's health and risk of developing certain diseases. It can detect changes in genes or chromosomes that may indicate an increased risk of developing medical conditions, such as Down syndrome, trisomy 18 syndrome, celiac disease, and cancer. It can also be used to detect carrier status for autosomal recessive diseases and to detect mutations in the fetus during pregnancy. In addition, large-scale genomic testing is used in research to learn more about the genetic causes of conditions.
Panel genetic tests are generally grouped into categories based on different types of medical problems. For example, a panel test may look for changes in many genes related to low muscle tone, short stature, or epilepsy. Carrier testing can tell you if you are carrying a copy of a mutated gene from an autosomal recessive disease. Prenatal DNA testing during pregnancy can detect mutations in the genes or chromosomes of the developing baby (fetus).
Genetic testing can provide valuable information about your health and risk of developing certain diseases. However, it is important to remember that while genetic testing can detect some conditions, it does not detect everything. In addition, they do not necessarily indicate how severe the symptoms may be or when a certain genetic condition may develop. Therefore, it is important to seek genetic counseling before and after genetic testing to ensure that you are the right person in your family to have a genetic test, that you have the right genetic test, and that you understand the results. Understanding genetic risk factors for cancer can provide you with the information you need to start a personal prevention plan.
For example, people with a second-degree relative (aunt, uncle, niece, nephew, grandparent, grandchild, or half-brother) with celiac disease have a risk of 1 in 39 of getting it on their own. People with Ashkenazi Jewish descent are more likely to carry mutations associated with certain diseases. Knowing this information can help people make informed decisions about their health and lifestyle choices. In some cases, genetic testing can provide information that can be used to take preventive action. For example, those who know they are at an increased risk of developing certain types of cancer or heart disease may decide to quit smoking or make dietary changes to reduce their risk.
Additionally, understanding the genetic causes of conditions can help researchers develop new treatments and therapies. Genetic testing is an invaluable tool for gaining insight into your health and potential risks for developing certain diseases. It is important to remember that while it can provide valuable information about your health and risk factors for certain conditions, it does not detect everything and should be used in conjunction with other forms of medical care.