Threats to Your Genetic Privacy

In a season of political divisiveness, the overwhelming majority of Americans agree on one thing: Your genes are your own business and should not be tapped by employers or health insurers deciding whether you or your family are fit for their company. Yet the long-awaited GINA, the Genetic Information Nondiscrimination Act, languishes in lawmaker limbo. The bill, with near-unanimous support of both House and Senate and a president solidly behind it, has been prevented from sailing through by one senator, physician Tom Coburn of Oklahoma, also known as "Dr. No," who makes serious sport of placing on hold bills he thinks need fixing. He'd like to build in certain protections for employers. A floor debate would end the standoff, but there is no time for that real soon. Supporters fear that if GINA isn't rescued, it will fall into the election-year abyss until 2009 or later. Coburn told me last week that he won't budge.

This deadlock continues just as the nation's investment in genomic research is being realized in a new era of gene-driven personalized medicine. Genes are not crystal balls. But they can be red flags signaling susceptibility to disease—and early preventive steps can be lifesaving. An example: Patients found to have genes predictive of colon cancer can cut the chances of getting the malignancy by undergoing a yearly colonoscopy that also removes any developing cancer-prone polyps. And information is growing on groups of genes that influence the development of more common conditions like diabetes, hypertension, and asthma. When combined with health histories and environmental exposures, personalized preventive strategies promise major public health benefits and healthcare cost savings. This envisions a personal genetic profile in everyone's medical record.

Your genomic information is powerful but, like all powerful tools, it bears risks. Genetics is fundamentally the science of differences and can be used to categorize people, stigmatize them, or subject them to social or economic discrimination. This concern has been felt for decades. Even when I was head of the National Institutes of Health back in 1991—barely a year after the project to sequence the human genome began—matters of genetic privacy and potential discrimination by employers or insurers based on genotype stoked congressional interest. Since then, Congress has taken many stabs at legislation to protect individuals, but only recently have they gathered much support.

It's time. With mapping of the human genome complete, a slew of disease-related genetic tests arriving on the scene every day, and the thousand-dollar personal genome just around the corner, privacy concerns are no longer abstract.

Real fears. Francis Collins, director of the National Human Genome Research Institute, will tell you the worry out there is real. To protect their privacy, some patients use assumed names when tested for breast cancer genes or ask their doctors to lie for them about positive disease-related gene results so insurance companies won't know. Lots of others don't even seek their genetic info for this reason. NIH has shown that nearly half of family members at high risk for inheriting a cancer-producing mutation were unwilling to participate in any part of a clinical study because of a fear of genetic discrimination. In fact, no one is really spared this worry. Genomic research has shown us that we all carry around dozens of glitches in our DNA. There are no perfect specimens.

Getting a handle on such imperfection is an insurance actuary's dream, and gene information is already being used in deciding whether to sell someone life insurance, particularly when the benefits are large. Some argue that even for health insurance, those with better genes should not be forced to pay the same high premium as those who appear to be more susceptible to disease. As for the workplace, there are examples of employers performing genetic tests on employees without their knowledge or consent but no clear examples of gene discrimination—so far.

But let's not wait until we have a hearing room filled with victims before taking action. As Collins warns, "The strategy to offer individual personalized medicine has a big cloud over its horizon. If we want a brighter healthcare future, we need to blow that cloud away." He's right. It's time to get GINA out of the holding pen, one way or the other.