There are more than 2,000 genetic tests available.

Laboratories offer clinical genetic testing for genes that are well-established and understood. Laboratories must meet certain federal standards (CLIA approval) to ensure reliable genetic testing and provide results on a fee-for-service basis. These results are usually available within four to six weeks.

You may be concerned about the risk for insurance discrimination if you undergo genetic testing. The Genetic Information Nondiscrimination Act (GINA) of 2008 makes it illegal to deny health insurance coverage or charge a higher rate or premium to an otherwise healthy individual found to have a potential genetic condition or genetic predisposition toward a disease or disorder.

GINA also makes it illegal for employers to use an employee’s genetic information in hiring, firing, placement or promotion decisions, although there are some exceptions.

There is also a state law that offers protection. Your genetic counselor will discuss these and other issues.

Research Genetic Testing

Research genetic testing is sometimes available when a gene has not yet been discovered, is newly discovered or is not well understood. During your initial genetic counseling session, the counselor will determine whether you or your family is eligible for any current research studies.

The counselor will discuss the details of each study and, depending on its requirements, you may or may not be provided with the results. Other family members may be asked to participate in the study as well.

Genetic tests are tests on blood and other tissues to find genetic disorders. More than 2,000 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 declining testing. For some, it is important to know whether a disease can be prevented or treated if a test is positive. In certain 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.


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