Though personalized medicine isn't yet a reality, it is in sight. The panel at the "Our Genome Ourselves" discussion at the World Science Festival in New York City in June spoke to a sold-out crowd about the current state and possible future of genetic testing and personalized medicine. "This month is the 10th anniversary of the first draft of the human genome," noted panelist and National Institutes of Health Director Francis Collins.
Since the sequencing of that genome, the technology has been getting even faster. Harvard University's George Church pointed out that advances in sequencing technology followed the curve of the computer industry, and then surpassed it. He also noted that earlier in the day, a $10,000 genome had been announced. Indeed, Illumina said that its consumer genome sequencing service would be available for $19,500, though that price would drop to $9,500 for people with certain medical conditions who would benefit clinically from whole-genome sequencing. "It will be, in effect, free," Church said.
However, one panelist pointed out that it is going to be the interpretation of those sequences that will be expensive — a free genome, sure, but with a $1 million analysis. "Almost all genetics now is risk genetics," said Robert Green, a clinical geneticist at Boston University. "Every gene is really a risk gene." Church contended that learning statistics is more important than algebra, trigonometry, or calculus.
Not every genetic finding is actionable, Collins added. For some, especially those that do confer a high amount of risk — such as BRCA 1 and 2 — there are drastic, life-saving actions that may be taken. At the same time, there's nothing to be done, at least medically, when someone learns his ApoE4 status, he pointed out. And the smaller the risk a gene confers, the less it is certain whether it says anything that may be useful.
For some, personalized medicine is close at hand. As part of Church's Personal Genome Project, MIT's Steven Pinker learned that he was at increased risk for hypertrophic cardiomyopathy, a risk that was confirmed in a CLIA-certified lab, Church told attendees. Pinker then headed to a cardiologist for an EKG, and so far is fine, Church added.