Consumer Genome Tests

With the U.S. Senate passing the Genetic Information Nondiscrimination Act (GINA) last week the bill now moves on to President Bush for signature into law. One more impediment to the genomics age will be removed. Does this pave the way for personal genomics companies such as 23andme and Navigenics?

The Wall Street Journal took up the issue of accuracy with these consumer products last week. As with many new (although I can't really call it disruptive) technologies, this one is somewhat of an expensive novelty. The main criticism seems to be a lack of accuracy in identifying just what genetic diseases an individual may be susceptible to. Although there are numerous tests for susceptibility to heart disease, the current genetic tests don't provide much more accuracy than can be provided by measuring blood pressure.

Some fairly rare genetic diseases do show up clearly on the tests, e.g. a condition associated with a higher instance of blood clotting: factor V Leiden. There is a gray area where the tests will indicate a higher susceptibility to a disease but don't go so far as to say you will contract it. This would be valuable to an individual by allowing them to increase their level of monitoring and taking preventative measures.

So far the insurance companies have yet to buy in on the whole genome tests although they have been covering disease specific tests such as those for breast cancer prognosis.

What the personal genomics companies are selling now is information, information in a quantity and form with which scientists and clinicians, let alone consumers, can barely get their arms around. As Howard McLeod, professor of pharmacology at the University of North Carolina, is quoted as saying "You get a lot of information but very little knowledge." The real challenge, and true value, will be to extract knowledge from these tests.

Marathon Dog

A few years back I had the opportunity to take a friend's dogs out for runs. One of these dogs was a bulldog named Bandit. Bandit was a bundle of fast twitch muscle and would literally pull me for first mile. The second mile he would jog beside me contentedly, the third I would have to coax him along and by the fourth mile I would have to sling him over my shoulder if I had any chance of making it back home.

Despite this seeming lack of endurance, given enough time and doggy treats, I was confident I could train him for a marathon. Fortunately for Bandit, his owner decided that 5k's were the limit and probably spared him an early demise.

The story of my dog training came to mind at yesterday's Healthcare Heroes event sponsored by the Boulder County Business Report. A panel of healthcare experts provided their opinions on the future of healthcare and fielded questions. An audience member asked whether it was appropriate for healthcare providers and payers to incentivize healthy activities such as diet and exercise, since it would potentially lower the individual's healthcare needs. Although some payers do offer incentives to reduce harmful habits such as smoking, John Sackett, CEO of Avista Adventist Hospital, provided a warning that it would be difficult to issue these incentives across the general population. Given the wide genetic disparities in populations, Sackett said, standard incentives such as weight loss, may not be helpful and may even cause harm.

One size fits all healthcare has proven to be an inadequate model, should preventative programs prove any different? Are genetically based incentives a possibility? Navigenics has announced that it plans to launch a genetic test called Health Compass that will indicate what lifestyle changes people could make to avoid or delay disease. This test will be offered via the Internet for $2,500.

Although these types of tests are in their infancy, they may very well become a standard part of the healthcare process in years to come. Bandit didn’t need a $2,500 test to tell him to stop at 3 miles, his genotype was expressed quite clearly. With humans it's not nearly as clear and the benefits of testing my prove to be compelling.