Genetic Testing: Benefits, Risks and the Future

The following are some things to consider when deciding about whether to have genetic testing:

• Not all clinical genetic tests simply take a “snapshot” of a person at a given time the way many other laboratory tests do (such as tests that measure the glucose level in your blood at a particular moment). Some are predictive as well. Predictive tests do not always give a clear yes or no answer, but instead will estimate what the chances are of developing a particular genetic condition. Unlike genetic diagnostic tests, predictive test results are not always definitive and may leave a person wondering what to do with those results, particularly if few available treatments or therapies limit the course of action.
• Some genetic tests will only detect if there is a specific genetic variant, or mutation present. Many genetic tests cannot determine whether a disorder will develop, nor can they provide information about other genetic disorders not being specifically looked for by that test.
• While a test may detect a disorder-causing genetic change, it often cannot predict how severely the person carrying that change will be affected. For example, some patients diagnosed with cystic fibrosis (CF) have mild symptoms while other patients with CF have severe lung, pancreatic, and intestinal problems.
• Many genetic tests cannot detect all of the variations that could cause a particular disorder. For instance, with genetic testing for cystic fibrosis, genetic testing panels may only look for the more common variants and not every variant associated with this disorder.
• Many disorders are the result of an interaction between one’s genes and one’s environment. The way in which these interactions lead to disorders is not clearly understood, and genetic testing cannot predict the results of these interactions. Examples of these disorders include coronary heart disease, type 2 diabetes, obesity, and Alzheimer disease.
• While there are few physical risks associated with genetic testing, there may be financial, emotional and social risks to consider.
  • When people are treated differently because they have a genetic disorder or genetic variant that pre-disposes them to a genetic disorder, this is called genetic discrimination. Federal and state laws exist to protect individuals from genetic discrimination by employers and health insurance companies. However, they do not protect people in every case. For instance, the federal Genetic Information Nondiscrimination Act (GINA), does not apply to employers with less than 15 employees or people in the military. It also does not extend to long-term care or life insurance providers. Individuals may wish to research their state’s privacy laws for this reason.
  • Health insurance may not pay for all forms of genetic testing. If you are concerned, you or your healthcare practitioner can contact your insurance company before undergoing testing.
  • Results of genetic tests may have implications not only for you but also for your family members, who may need genetic counseling to decide whether to be tested and for information on the implications of results.

Genetic testing is becoming more affordable and continues to expand. Not only are more tests available in the laboratory, but home genetic tests, also called direct-to-consumer (DTC) tests or consumer genetic tests, are becoming more common. DTC tests can be beneficial because they are convenient and can help individuals better understand their disease risk factors. However, it is important to recognize that they have limitations, and are not always required to be performed in laboratories accredited according to the standards of the Clinical Laboratory Improvement Amendments (CLIA).

It’s important to fully weigh potential risks and benefits before making decisions about genetic testing. An absolutely essential component of clinical genetic testing is undergoing the informed consent and counseling process. This process will educate you about the genetic test so that you have enough information to decide whether or not to have testing and will ensure that you voluntarily agree to have testing done. Counseling will also help you understand all the potential outcomes of testing and consider what you plan to do with the results of these tests. It is also important to know your legal rights and be certain that your privacy is respected. The best way to educate yourself about genetic tests is to talk to your healthcare practitioner or a genetic counselor about whether genetic testing would benefit your health.

Genetic education and counseling are often advised to help understand and manage the results of genetic tests. Genetic counselors are trained professionals who can help individuals who have, or have relatives with, a genetic disorder, as well as those at increased risk for a disorder to better understand inherited conditions and genetic testing. They can identify families at risk of certain genetic disorders and offer support and counseling as well as serve as patient advocates. For more information on genetic counselors and to find one near you, visit the National Society of Genetic Counselors web site.