What is genetic testing?
Genetic testing looks at your genes. Genes are the DNA instructions you receive from your mother and father. Genetic tests may identify risks of health problems. This can help people choose treatments or to understand how they may respond to treatments.
What can I learn from testing?
Genetic testing tells you information about your DNA. Genetic test results can be hard to understand. Specialists like geneticists and genetic counselors can help explain information.
What types of genetic tests are there?
Diagnostic testing can identify the disease that is making a person sick. The results of a diagnostic test may help you make choices about your health.
Predictive and presymptomatic genetic tests find gene changes that increase a person’s chance of developing diseases. This information could be useful in decisions about your lifestyle and health care.
Carrier testing is used to find people who carry a change in a gene that is linked to disease. Carriers may show no signs of the disease. However, they can pass on the gene change to their children, who may develop the disease or become carriers themselves.
Prenatal testing is offered during pregnancy to help identify fetuses that have certain diseases.
Newborn screening tests babies one or two days after birth to find out if they have certain diseases known to cause problems with health and development.
Pharmacogenomic testing gives information about how certain medicines are processed by an individual’s body. This type of testing can help your health care provider choose the medicines that work best for you.
Research genetic testing is used to learn more about how genes affect health and disease.
"The last few decades have brought profound advances in our understanding of how the human genome works; with this has come exciting opportunities to use genetic testing for a wide range of medical applications.”
– Eric Green, M.D., Ph.D. Director of the National Human Genome Research Institute
What are the pros and cons of genetic testing?
Benefits: Genetic testing may be helpful whether the test identifies a mutation or not. For some people, test results remove some of the uncertainty surrounding their health. These results may also help doctors and give people more information to make decisions about their health, as well as their family’s health, allowing them to take steps to lower the chance of developing a disease.
Drawbacks: Genetic testing is relatively safe for your body. However, it can be hard to find out your results. Sometimes, testing can be costly.
Emotional: Learning that you or someone in your family has or is at risk for a disease can be scary. Some people also feel guilty, angry, anxious, or depressed when they learn their results.
Financial: Genetic testing can cost anywhere from less than $100 to more than $2,000. Health insurance companies may cover part or all the cost of testing.
Many people are worried about discrimination based on their genetic test results. In 2008, Congress enacted the Genetic Information Nondiscrimination Act to protect people from discrimination by their health insurance provider or employer.
How do I decide if I should be tested?
There are many reasons why people might get genetic testing. A test could help doctors learn if you or your family have certain patterns of disease. You can decide if a genetic test will be helpful for you.
A geneticist or genetic counselor can help families decide if a particular genetic test will be helpful.