Many people who call us about testing for genetic risks, such as thrombophilia testing, are concerned about genetic discrimination. As a result, they’re looking for ways to test anonymously and keep their test results off their medical record. How do you respond to such concerns?
I would first recommend that people become fully informed about the laws that are in place to prevent genetic discrimination. These include:
The Health Insurance Portability and Accountability Act (HIPAA), which protects people with group health insurance from being denied insurance, having it cancelled, or having their individual rates increased based on genetic test results. HIPAA does have certain limitations, however. For example, it does not protect those who are individually insured. In addition, disability and life insurance may be impacted.
Because of the gaps in HIPAA, many states now have laws to provide additional protection. People can learn about their states’ laws on www.genome.gov. Most states have laws that:
prevent insurers from requiring genetic tests
prevent insurers from using genetic test results to make decisions about eligibility or rates
apply to individual health plans as well as group health plans
prevent disclosure of your genetic test results to third parties without your knowledge
There is also a push underway to expand federal legislation to include these elements. The Genetic Information Nondiscrimination Act (GINA) has already been unanimously approved and is undergoing debate in the House of Representatives. Approval of this law would provide expanded protection.
I find that once people understand these laws, many have less fear about testing. However, there are exceptions—including those that are individually insured. In these situations, one may consider testing anonymously, or paying for testing out of pocket, so that only he or she will have access to test results. I understand this in certain situations, but I always encourage people to think about the complexities that may arise. For example, if you find out you are positive, you may want your doctor to know, so that the best decisions about your health management can be made. If you are undergoing surgery, or are considering pregnancy for instance, it is important to let your doctor know your result, so that you can be treated accordingly. In these situations, the benefits of sharing your test result far outweigh risks of genetic discrimination, in my opinion.
On the other hand, some people may feel more comfortable testing anonymously. If they are negative (often a 50% chance), testing in this manner may provide tremendous piece of mind, and they can choose to share their negative result if they wish. Testing negative may also alleviate the need for others in the family to get tested (i.e. if there is thrombophilia in the family, but a parent tests negative, their children would not need screening (unless there is concern about thrombophilia on the other side of the family)).
In summary, individual decisions must be made when it comes to genetic testing It is important to remember that genetic tests can provide valuable and potentially life-saving information. The benefits of testing must be weighed against risks of genetic discrimination.
Liz Varga is a genetic counselor and expert on inherited blood clotting disorders. This is part II of an interview in honor of National DVT Awareness Month. Looking for more info on factor V Leiden, blood clotting disorders, or DVTs?
Here is some additional information about the "genetics" of this condition that was written by our Genetic Counselor and other genetic professionals: http://www.accessdna.com/condition/Thrombophilia/365. I hope it helps. Thanks, AccessDNA