There was a fascinating moment at Google’s Cambridge office Thursday evening when Harvard geneticist George Church asked how many people in a crowd of about 150 had had their genomes sequenced.
Not a single person raised a hand.
And this was a room full of folks who had turned out to hear Church keynote an Xconomy event called Healthcare Gets Personal — people with a keen interest in the future of medicine.
“I consider this one of the greatest paradoxes of our time,” Church said.
Ten years after completion of the Human Genome Project, why haven’t more people had their genomes sequenced?
One obvious reason is cost. Though the price of genome sequencing has fallen dramatically in recent years, the process will still run you about $5,000.
That’s a prohibitive expense for a lot of people, though Church suggested it would not be a major barrier for most in attendance Thursday, many of whom had shelled out $150 just to be there.
He said it is likely, however, that the downward trajectory of sequencing costs is causing even those who can afford it now to wait until the price is cheaper still.
Then there’s the question of just how valuable the information collected from genome sequencing really is. Church conceded that the full potential of sequencing is yet to be realized, but noted that testing already can alert you to diseases for which you or your partner is a carrier, and can tell you which ones you are at risk for developing later in life.
This is actionable data, he emphasized. Couples can make more informed family planning decisions when they know the odds that a child will develop Tay-Sachs disease, for instance. A man who learns that he is predisposed to hypertrophic cardiomyopathy, a form of heart disease, can watch for it more closely and potentially catch it before symptoms arise.
Of course, some people prefer not to know which health problems are hanging over their heads, Church said. But he noted patients can instruct their doctors to share only information about disorders they can treat, and withhold the rest.
Church said illumina, a San Diego company, would be his first choice for full genome sequencing today. A genetic testing company Church advises, 23andMe, was ordered last month by the Food and Drug Administration to stop marketing its analysis of $99 saliva test kits that claim to screen for about 250 diseases, until regulators review the accuracy of the results.
Ultimately, if genome sequencing won’t put you in the poor house, there’s no reason not to do it, Church argued.
“I wouldn’t wait,” he said. “I didn’t wait. I was the fifth person on the planet to get sequenced.”