Health Screening—Genetic Testing

Genetic tests are tests on blood and other tissue to find genetic disorders. Over 2000 tests are available. Doctors use genetic tests for several reasons. These include

• Finding genetic diseases in unborn babies
• Finding out if people carry a gene for a disease and might pass it on to their children
• Screening embryos for disease
• Testing for genetic diseases in adults before they cause symptoms
• Making a diagnosis in a person who has disease symptoms
• Figuring out the type or dose of a medicine that is best for a certain person

People have many different reasons for being tested or not being tested. For some, it is important to know whether a disease can be prevented or treated if a test is positive. In some cases, there is no treatment. But test results might help a person make life decisions, such as family planning or insurance coverage. A genetic counselor can provide information about the pros and cons of testing.

NIH: National Human Genome Research Institute

• BRCA1 and BRCA2 gene testing (Medical Encyclopedia)
• Genetic testing and your cancer risk (Medical Encyclopedia)
• Genetic Testing: What It Means for Your Health and Your Family’s Health – NIH (National Institutes of Health) – PDF

Also called: Screening tests

Screenings are tests that look for diseases before you have symptoms. Screening tests can find diseases early, when they’re easier to treat. You can get some screenings in your doctor’s office. Others need special equipment, so you may need to go to a different office or clinic.

Some conditions that doctors commonly screen for include

• Breast cancer and cervical cancer in women
• Colorectal cancer
• Diabetes
• High blood pressure
• High cholesterol
• Osteoporosis
• Overweight and obesity
• Prostate cancer in men

Which tests you need depends on your age, your sex, your family history, and whether you have risk factors for certain diseases. After a screening test, ask when you will get the results and whom to talk to about them.

Agency for Healthcare Research and Quality