P.C. Shannon

Recently, Dr. James Watson, one of the co-discoverers of the structure of DNA, has his complete genome sequenced. He is the first person to have his genome completely sequenced, although Dr. J. Craig Venter, scientific iconoclast, was not far behind. The real breakthrough is not that it was done, but that it was done in two months at a cost of about $1 million. Compare that to the Human Genome project, which took 13 years and $3 billion. This massive increase in efficiency is due, in part, to the sequencing developed by companies like 454 Life Sciences. Within a few years, the cost to sequence a complete genome will fall to $100,000, and it will continue to fall by an order of magnitude every few years, so that a complete genome will cost $1000 within a decade. This price point is a huge leap towards a new era of “personalized medicine,” but there are larger ramifications as well.

Personalized medicine would allow doctors to tailor treatment for each person’s individual genetic makeup. If you happen to have a higher-than-average risk for, say, high cholesterol, then preventive treatment can start early, long before symptoms appear, and the condition can be closely monitored. This sort of genetic profiling opens up new possibilities for identifying and treating cancer. It’s also conceivable that a patient’s reaction—both positive and negative—to drugs could be predicted, allowing doctors to prescribe of custom cocktail for maximum efficacy.

Easy access to the intimate secrets of one’s genome also conjures images of Gattaca and profit-hungry insurance companies denying coverage. Both Watson and Venter released their genomes to the public and researchers worldwide as an effort to set a precedent against secrecy. Indeed Watson even said, “I’m afraid we’ll begin to think of a lot of reasons for restricting release of genomes and guarding them as if they were nuclear weapons.” He also kept secret the gene that predisposes to Alzheimer’s Disease.

That’s the key thing to understand: genetics is not destiny. We have identified very few genes that are implicated in diseases, and we have an even poorer understanding of how those genes interact with the environment and whatever else to actually cause disease. That knowledge will develop over time, which will give us plenty of time to figure out the ethics involved.

Insurance companies are another concern, but the solution is similar. Simply put, insurance companies are very smart about risk factors and probabilities and all that jazz. They will have a pretty good idea of how much having a predisposition for a given disease will affect the cost of your health care. My intuition is that, in the overall picture, the impact will be minuscule. Moreover, the development of ethical standards will almost surely lead to laws preventing denial of coverage due to genetic factors. Of course, that assumes that the current system remains intact, which almost assuredly not the case.

Personalized medicine is coming. Sequencing of individual genomes is the beginning, not the end. There are a lot of gaps to fill in about how genetics affect disease, so we have time to address the ethical issues. But we shouldn’t ignore the ethics or just assume it will all work out either.