Genetic testing is medical testing that identifies changes in genes, proteins, or chromosomes. Genetic testing is making incredible progress in the medical field. Genetic testing can be performed on adults, children, infants, and even unborn children!
Genetic testing can find changes that are related to inherited disorders. Results from genetic tests can confirm or rule out conditions and/or help determine a person’s chance of developing or passing on a genetic disorder. There are many genetic tests being used today, and more are being developed at a rapid rate.
There are five incredible things that genetic testing can tell a person:
Genetic Testing to Determine if an Unborn Child Might Have a Genetic Condition:
Preconception genetic testing is available for adults before even deciding to become pregnant. Prenatal genetic testing can be done during a pregnancy. Genetic tests can help expectant parents know whether an unborn child might have a genetic condition. Newborn genetic testing can help screen newborns for missing or abnormal proteins that can cause disease.
Genetic Testing Performed to Diagnose a Disease in People with Certain Symptoms:
Genetic testing can be performed to diagnose a disease in people with symptoms, but also to help measure the risk of developing a specific disease. Doctors can use results from genetic testing to give appropriate treatments and medicines for patients. Without genetic testing, some symptoms are hard to diagnose. Early treatment for a disease that is discovered, can save lives.
Genetic Testing can Show Whether a Person is a Carrier for a Genetic Disease:
Many people decide to undergo genetic testing to find out if they are carriers for a genetic disease. Genetic tests can determine if there is an inherited disposition to a certain disease, even if symptoms are not there. Genetic testing is often offered to people who have a family history of a specific inherited disease. Some ethnic groups have a higher risk of specific inherited diseases such as sickle cell anemia. A carrier can have an altered gene but not get a specific disease; however, it can be passed onto children of the carrier.
If the results of a genetic test do show that someone has a disease-causing gene alteration, the person can begin to take steps to lower the chances of developing the disease through methods such as diet and exercise.
Without genetic testing, families at high risk for genetic diseases may have to live with uncertainty. A sense of relief can be provided if results of genetic testing show that a known alteration-causing disease is not present in a person.
Genetic Testing that Can Provide Information about How Medicines are Processed by the Body:
Pharmacogenomic genetic testing provides information about how specific medicines are processed by the human body. This testing can help health care providers choose the medicines that work best for patients’ genetic makeup. This type of genetic testing looks at a person’s genes to determine how drugs move through the human body, and are broken down. One example of how this testing is beneficial is in the case of chronic myelogenous leukemia; patients can benefit from a medication named imatinib.
Genetic Testing Can Help Expectant Mothers Know Whether the Unborn Child Will Have a Genetic Condition:
Women who are 35 years old or older have a higher risk of having a child with certain abnormalities and/or birth defects. Some common genetic disorders that can occur during pregnancy are down syndrome and spina bifida. Today, many expectant parents decide to undergo genetic testing.
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Sara Garrison is a genetic counselor and guest author at Top Counseling Schools, where she contributed to the Genetic Counseling Career Guide.