Genetic Testing: How it’s used for healthcare

Genetic testing is available for over 2000 rare and common conditions. Genetic testing is available from over 500 labs. Today genetic testing is an important part of health care for many individuals. Information from genetic testing helps to detect risk for disease, guide strategies for maintaining health, offer more accurate diagnosis, and guide treatment choices for a wide variety of conditions.

  • There are a number of different types of genetic tests available today, including:
    • Diagnostic testing – identifies a genetic condition or disease that is making or in the future will make a person ill. The results of diagnostic testing can help in treating and managing the disorder.
    • Predictive and pre-symptomatic genetic testing – finds genetic variations that increase a person’s chance of developing specific diseases. This type of genetic testing may help provide information about a person’s risk of developing a disease, and can help in decisions about lifestyle and health care.
    • Carrier testing–tells people if they “carry” a genetic change that can cause a disease. Carriers usually show no signs of the disorder; however, they can pass on the genetic variation to their children, who may develop the disorder or become carriers themselves.
    • Prenatal testing – is offered during pregnancy to help identify fetuses that have certain diseases.
    • Pre-implantation genetic testing –is done in conjunction with in vitro fertilization to determine if embryos for implantation carry genes that could cause disease.
    • Newborn screening – is used to test babies one or two days after birth to find out if they have certain diseases known to cause problems with health and development.
    • Pharmacogenetic testing – gives information about how certain medicines are processed in a person’s body. This type of testing can help a healthcare provider choose the medicines that work best with a person’s genetic makeup. For example, genetic testing is now available to guide treatments for certain cancers.
    • Research genetic testing – helps scientists learn more about how genes contribute to health and disease, as well as develop gene-based treatments. Sometimes the results do not directly help the research participant, but they may benefit others in the future by helping researchers expand their understanding of the human body.

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