President Bush has a bill on his desk, the Genetic Information Nondiscrimination Act (GINA), which will prohibit discrimination on the basis of genetic information with respect to health insurance and employment. He is expected to sign the bill, but is science – and the people – ready? 

The bipartisan bill, co-sponsored by Reps. Judy Biggert, R-Ill., and Louise Slaughter, D-N.Y., passed the Senate by a vote of 95-0 and the House, after agreeing to some adjustments by the Senate, passed the bill 414-1 (the lone nay? Rep. Ron Paul, R-Texas). 

The bill opens with a nod to scientific progress:

Deciphering the sequence of the human genome and other advances in genetics open major new opportunities for medical progress. New knowledge about the genetic basis of illness will allow for earlier detection of illnesses, often before symptoms have begun. Genetic testing can allow individuals to take steps to reduce the likelihood that they will contract a particular disorder. New knowledge about genetics may allow for the development of better therapies that are more effective against disease or have fewer side effects than current treatments. These advances give rise to the potential misuse of genetic information to discriminate in health insurance and employment.

The media is jumping on the personalized medicine bandwagon as well. CBS Evening News has an ongoing series called Your DNA Destiny, exploring personal stories of people who potentially have risks for diseases like Alzheimer’s or colon cancer. Other news outlets, from newspapers like the Wall Street Journal and LA Times to news magazines such as Newsweek, are covering the issues – and providing free publicity for companies cashing in on the trend.

A press release from Biggert’s office notes that “there are over 1,236 predictive genetic tests that can determine if an individual has a high or low risk of suffering from specific diseases such as cancer, heart disease, diabetes, and Alzheimer’s. With this information, individuals can take steps to mitigate this risk.”

Companies like Redwood Shores, Calif.-based Navigenics, Mountain View, Calif.-based 23andMe, and Reykjavik, Iceland-based deCODEme (an offshoot of biopharmaceutical company deCODE Genetics) will scan your genome for a hefty sum, providing people with knowledge about their own risk of developing certain diseases.

This knowledge is a double-edged sword. If you knew your newborn had a high risk for developing a preventable condition, you could take steps to prevent or push back onset. But what if the disease is multi-factorial, as with diabetes? What if a cure hasn’t been discovered, as with cystic fibrosis?

In a recent draft guidance, the Food and Drug Administration addressed the complex task facing drug developers – at what part of the disease do you target your drug?

Most patients with diabetes mellitus have either type 1 diabetes (which is immune-mediated or idiopathic) or type 2 diabetes (with a complex pathophysiology that combines progressive insulin resistance and beta-cell failure and has a heritable basis). Diabetes also can be related to the gestational hormonal environment, genetic defects, other endocrinopathies, infections, and certain drugs.

An article by Sally Lehrman in Scientific American noted the same problem:

Except in the case of rare disorders caused by a single gene variant, having a genetic susceptibility is far from a guarantee of falling ill. Multiple genes interact within a complex biological system that includes many other important players, among them RNA and chemicals in the environment. Complex conditions such as diabetes or heart disease have myriad behavioral and environmental components working in concert with an unknown number of genes.

And there’s more – there are still parts of the human reference genome to discover. Jeffrey M. Kidd et al. discussed their discovery in an article in the May 1, 2008 issue of Nature of 525 new insertion sequences that are not present in the human reference genome,” and they show that “many of these are variable in copy number between individuals.”

While the science is progressing at a rapid rate since the Human Genome Project wrapped up in 2003, Lehrman writes, people may be moving at a slower pace.

With so much still to learn, it is too early to use results from gene association studies for health-planning purposes, according to [Muin Khoury, director of the Centers for Disease Control and Prevention’s public health genomics office]. Besides, he points out, it is unclear in the medical literature whether news about genetic susceptibility to particular conditions has any power to change people’s habits. Moreover, physicians are unsure how to apply the drug metabolism information from pharmacogenomics tests in their prescribing decisions. And in some cases, the tests offered online seem altogether disconnected from genetic medicine. A July 2006 U.S. Government Accountability Office study of services provided by nutrigenetics companies questioned whether, in some cases, any DNA was analyzed at all. The agency concluded that the firms “mislead consumers by making predictions that are medically unproven.”

A number of thorny questions need to be debated and answered – who owns and controls genetic information? How do we prepare healthcare professionals for the new genetics? How do we prepare the public to make informed choices? Are genetic tests reliable and interpretable by the medical community? Should testing be performed when no treatment is available? Should parents have the right to have their minor children tested for adult-onset diseases?

There are many ethical, scientific and legal issues yet to be addressed. It remains to be seen whether President Bush will sign the GINA bill, but perhaps more importantly if the population will embrace the technology.