Taped to the wall behind my home-office desk is a strip of paper on which I have printed these words: “Learn to love not knowing.” This may sound like I’m aspiring to a state of general cluelessness (already there), but it’s actually a mantra to guide me through the morass that is the Western healthcare paradigm. Borrowed from B. J. Miller, MD, former executive director of the renowned Zen Hospice in San Francisco, it’s a reminder that certainty is an illusion — especially when it comes to our health.
Michael Snyder, MD, I suspect, would beg to differ.
Snyder, chair of Stanford University’s genetics department, has spent the last decade tracking everything that’s happening inside his body — down to its molecular activity — in an effort to pioneer a new diagnostic model that’s come to be known as precision medicine. This “big data” approach, he believes, will allow physicians to discover genetic predispositions to various diseases long before symptoms appear and devise appropriate treatment plans.
Snyder and his team rounded up 108 volunteers (Snyder, who in 2011 discovered he was diabetic, also signed up) to study the effects of this model. As Carl Zimmer reports in the New York Times, the researchers sequenced each participant’s genome and performed extensive physical exams every three months, collecting blood, urine, stool, and cheek-swab samples. Some of the volunteers also wore glucose monitors and heartbeat trackers.
The results, published earlier this month in Nature Medicine, were intriguing. Several subjects received diagnoses conventional exams had missed, for instance, and genome sequencing uncovered a mutation in one of the volunteers that was rendering a specific medication ineffective against stroke. Yet another participant discovered a genetic glitch associated with a defective heart. “It turns out 53 out of 109 people learned something really, really important from doing these deep profiles,” Snyder said.
Equipping each of the volunteers with a personalized health baseline that extends far beyond anything they’d get from a conventional exam, Snyder seeks to address one of the great weaknesses of Western medicine — its reliance on a one-size-fits-all diagnostic model. At the cellular level, we are all unique. Theoretically, at least, recognizing that uniqueness would revolutionize treatment protocols. And spotting genetic markers for diseases before the symptoms appear would theoretically allow patients and doctors to take steps to ameliorate the condition.
“They carpet-bomb the body with tests and basically assume that the discovery of everything they hit is beneficial,” Henrik Vogt, a postdoctoral researcher at the University of Oslo, told the Times. “But there may be lots of collateral damage they don’t consider.”
Vogt noted that Snyder’s study is inconclusive because he did not compare his results against a control group of subjects that received conventional care. And he argued that the cost and effort involved in such big-data evaluations may well be more than most people can afford. “The approach is unlikely to work for people most in need — those who are poor, are barely hanging on, and have other things to worry about than monitoring themselves constantly.”
Indeed, early precision-medicine companies have found it tough to recruit clients. Zimmer reports that Arivale, a well-funded Seattle startup, recently went belly-up, citing consumer price resistance.
But I’d venture that it’s not just the cost that’s keeping people away. It could be that most people don’t really want to know that much about how their genes are behaving. Last week, for example, researchers at Georgetown University Medical Center published the results of a study noting that as many as nine out of 10 participants with a parent suffering from Huntington’s disease (HD) showed no interest in undergoing genetic testing to learn whether they will also develop the disease.
“Back in 1993, when the genetic mutation causing HD was discovered, we anticipated that many people at risk would want to be tested, just to deal with the uncertainty, but that is not the case,” lead study author Karen Anderson, MD, said in a statement. “Only about 10 to 15 percent of people who know they are at risk for HD have been tested since the test became available, and that percentage really hasn’t changed much over time.”
The reasons shouldn’t really be all that surprising. Why go through life with the knowledge that you’re likely to develop an incurable disease?
Still, I doubt that Snyder and other precision-medicine pioneers will have much difficulty attracting attention — and study subjects — as this model continues to mature. Just don’t bother calling me. I don’t need to know.