Genetic Testing

Genetic testing is a specific medical test that helps to reveal any changes in chromosomes, genes, or proteins. A genetic test studies your genes and DNA (deoxyribonucleic acid), and scans for the presence or absence of special proteins that signal irregular gene function. Today, over 1,000 genetic tests exist, with many more in development. Genetic testing is used to verify a diagnosis, calculate a patient’s risk for developing a disease, and determines the risk of people having a child with a genetic disorder. Over the past few years, genetic research has made major strides; tests can now determine genetic risk for heart disease, diabetes, and certain types of cancer. Gathering this personal data can help you strategize preventative efforts with your healthcare provider to avoid complications in the future.
Genetic tests are done by using a sample of blood, hair, skin, amniotic fluid, or tissue. The sample is collected by a doctor or nurse, and sent to a laboratory for analysis. The laboratory technicians study the genetic sequences, and look for changes within the chromosomes, proteins, and DNA to determine if any abnormalities are present. There are several different types of genetic testing available, dependent upon the specific reason for the test and the overall goal. Newborn screening is completed just after a baby is born to determine if any genetic disorders are present. Diagnostic screening is used to identify specific conditions, or to confirm a diagnosis based on signs and symptoms. Carrier testing is utilized to help determine if someone carries a copy of a genetic mutation based on family history of a certain medical condition. Prenatal screening detects changes within a fetus’s chromosomes, and preimplantation screening can help reduce the risk of a child being born with a disorder. Predictive and presymtomatic testing helps to identify genetic mutations that can elevate a person’s risk of developing a genetic based disorder later in life.

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Risk Involved:

The risks involved in the majority of genetic testing are relatively small, especially for the tests that require a quick blood draw or buccal sample. Prenatal screening for genetic disorders carries a small risk for miscarriage, as a sample of amniotic fluid is required to complete the test. Other risks may include feelings of anxiousness or guilt pertaining to the results. Genetic testing has the potential to reveal information about other family members, in addition to the person tested, which can create additional emotional stress.


The benefits of genetic screening can far exceed the risks, as the results can sweep away the stress of uncertainty, and help people make informed decisions regarding their heath. A negative result can prevent scheduling unnecessary future check-ups and screenings, and a positive result can help a person find preventative care and treatment options. Prenatal and newborn screenings help identify disorders early on, so medical intervention can start as soon as possible to limit future complications. The results, whether positive or negative, empower you to manage your health and make informed medical decisions.