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What are the risks for testing of genetic disorders?

Samuel M. Warren, MD
Anesthesiology

The risks associated with "presymptomatic" genetic testing for disease risk in adults are social, legal, financial, emotional, and those that relate to misinterpretation of results.  Each quickly becomes a lengthy and personalized topic, but for starters:


Legal discrimination against you in life, disability, or long term care insurance.  The Genetic Information Nondiscrimination Act (GINA) of 2008 is a well designed federal law that DOES protect you from discrimination in health insurance and employment actions on the basis of your genetic information.  However, GINA does NOT apply to life, disability, or long term care insurance.
Wasted money on genetic tests that have little clinical value compared to other purchases for a healthier lifestyle.
Family stress from not having a pre-specified plan for sharing (non-sharing) your results with your blood relatives, since the information might affect their well-being and disease risk too.
Emotional (over)reactions to your test results. These include powerlessness, anxiety, depression, invincibility, and others.  Most stem from... 
Misinterpretation of test results.  Almost all disease results from complex and incompletely understood interactions between multiple genes and environment.  You need to investigate how clinically useful your genetic test results are given your other risk factors, and if the genetic test has a proven clinical track record or is "hot off the press". 


Important
:  A “good test” is one that improves health and well-being compared to not having ordered the test in the first place. Regardless of the test result!  Applied to presymptomatic genetic testing, a good test often depends on you:


Have your team in place prior to ordering a genetic test: a physician who appreciates basic genetics and basic statistics, a genetic counselor who appreciates basic statistics and the limitations of genetic testing for susceptibility to most common diseases.  Have a “plan of empowerment” for both negative and positive result possibilities.  Pre-consider your life, LTC, and disability insurance, and family communication.  Embrace uncertainty, since it is the nature of good science and your results are likely to contain a lot of it!  If your test results lead to a recommendation for further testing that is either expensive or physically invasive, get a second opinion.               

The physical risks for testing for genetic disorders are usually small, except for prenatal testing, in which there is slight risk of miscarriage. Some people may have strong emotional reactions to the results, like depression or anger. The results can also cause friction among members of a family. Your family's information might be disclosed in the test results, for example. Test results can also create the possibility of employment or insurance discrimination.

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Important: This content reflects information from various individuals and organizations and may offer alternative or opposing points of view. It should not be used for medical advice, diagnosis or treatment. As always, you should consult with your healthcare provider about your specific health needs.