Talk

Amy Harmon looks at the issue of privacy, fear of discrimination, and the very real repercussions some people are facing as a result of the tension between important medical information and lack of comprehensive legislation to protect patients’ genetic privacy.

She quotes Francis Collins, director of the National Human Genome Research Institute at the NIH, “It’s pretty clear that the public is afraid of taking advantage of genetic testing. If that continues, the future of medicine that we would all like to see happen stands the chance of being dead on arrival.”

I don’t think it’s as dire as that, but all of us — patients, physicians, industry and thought leaders — need to push for systemic solutions. Genetic testing is redefining the practice of medicine, and our convoluted infrastructure of delivering healthcare needs to adjust to accommodate it.

Harmon’s profiles of people who have chosen to test, not to test, and to test anonymously by paying for testing themselves illustrate how this tension has a fundamental impact on peoples’ health and families’ lives:

• A family with factor V Leiden chooses not to test their 16-year-old daughter. Her doctor prescribes oral contraceptives for a medical reason, and she ends up with a major DVT (blood clot).
• A self-insured woman whose two sisters have bRCA1 mutations, which increase risk for breast and ovarian cancer. Fearing that she has inherited the same risk, but afraid to test for insurance reasons, she chooses to have her ovaries removed based on her strong family history. “There’s a big difference between someone saying, ‘I have a strong family history,’ ” she says, “and saying, ‘I only have a 13 percent chance of not getting breast cancer during the time you’re insuring me.’” Later, testing shows that she’s negative for her sisters’ mutation — and at no more risk that the average woman.
• A freelancer pays for hemochromatosis (iron overload) testing herself, rather than have it on her medical and insurance record.
• A woman with alpha-1, an inherited lung disease, manages her own medical care until disclosure is necessary to get the care she needs.

One of the reasons DNA Direct was started was to provide a responsible solution for people seeking genetic counseling and testing who could not or would not otherwise secure it. As a result, we work with all parties in the genetics/healthcare mix — families, physicians, labs, etc — to make the most effective use of genetic testing to change people’s healthcare. For every troublesome story Harmon profiles, I have heard many more positive experiences given my unique job. I hope the domino-effect of change has begun.

Tags: alpha-1, brca, discrimination, dna, factor v leiden, Genetic Testing, gina, Hemochromatosis, insurance, medical information, privacy, testing

This entry was posted on Monday, February 25th, 2008 at 12:50 pm and is filed under Breast Cancer, Family Health & Heredity, Genetic Testing, Hemochromatosis, Privacy, Legislation & Policy. You can follow any responses to this entry through the RSS 2.0 feed. You can leave a response, or trackback from your own site.