Talk

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?

• Liz’ personal story and Lori’s personal story of discovering their genetic risk
• National Alliance for Thrombosis and Thrombophilia
  
• DNA Direct’s (confidential) genetic testing services for thrombophilia

Technorati Tags: genetic discrimination, genetic privacy, legislation, hipaa, gina, dvt awareness month, blood clotting disorders, thrombophilia, factor v leiden, elizabeth a. varga

To celebrate DVT Awareness Month, I asked the fabulous Elizabeth Varga for an interview. Liz has factor V Leiden, an inherited blood clotting disorder, and she has worked tirelessly to raise awareness about blood clots and thrombophilias, educating both patients and medical professionals. Liz is also a board-certified genetic counselor at Columbus Children’s Research Institute, where she also develops health promotion programs for the blood clotting disorders community.

Here is the first part of our interview. Stay tuned for more!

1. Can we talk about your personal life first? How did you learn you had factor V Leiden? How did it impact your personal and professional life?

Sure, I am always happy to share my story. My factor V Leiden story actually started with my mom. In 1999, she was traveling and hiking when her leg became painful and red. When she felt her leg, it felt like there was a large rope running down the inside of her thigh. She soon learned she had “superficial thrombophlebitis”; basically a blood clot running through the outer veins in her leg. She didn’t have to have any treatment for this, besides resting and taking pain killers. But when her doctor interviewed her, he learned that her father had had several similar episodes. It was then that he recommended testing for several clotting disorders. A couple weeks later, she learned she was heterozygous (had 1 copy) of the factor V Leiden mutation.

At the time, I was in college, so I didn’t know much about the incident. However, on a visit back home, I met with my family doctor for a checkup and she started to talk to me about the gene found in my mom. She told me that she had a colleague also had factor V Leiden. This woman had had a stroke at the age of 40; it was later learned that her colleague had a hole in her heart (called a patent foramen ovale or PFO) and that a small clot had developed in her leg veins that traveled to her brain.

My doctor also told me about birth control pills and how they could interact with factor V Leiden. She said she would recommend that I discontinue taking the pill if I tested positive. So, I decided to take the genetic test and go from there. (more…)

Hsien Hsien Lei has a great interview series at Genetics & Health, which features people from all aspects of the genetics industry — researchers, CEOs, advocates, academics. Recently, she interviewed me. Thanks, Hsien, for a great interview!

Technorati Tags: interviews, genetics, genes, dna, genetic testing