Medical researchers love to discuss and dissect personalized medicine with an evangelical fervor. It’s hard to blame them. The promise of having your health, present and future, pinpointed down to your DNA is tantalizing.
Advances in technology already have the cost of doing personal genome sequencing down to $1,000, which brings personalized medicine closer.
But so far, personalized medicine’s reach seems to exceed its grasp. Mostly, it has made for some lively and sometimes contentious debate. That usually occurs between the true believers who want something to happen so bad they can taste it, and skeptics who equate it to snake oil.
“There will be a day, (medical researchers) say, when we will all carry our genomes around on a thumb drive, but the hurdles, fiscal and otherwise, have proven difficult to overcome,” says scientist-turned-journalist Lauren Gravitz.
Even with the $1,000 human genome sequencing, a bargain compared to $100 million 15 years ago, and a quick turn around, “it’s not quite enough,” she says.
“Not only is it still too pricey for everyday use, but once that genome has been sequenced it also has to be mapped and analyzed. What to do with the resulting data is another problem.” Because of its storage size, about 400GB per genome, storage at even $1 per gigabyte has prohibitive costs. For perspective, many people have laptops with a storage capacity of 250GB, and that’s plenty — for everyday computer use.
Let’s establish ground zero, or what personalized medicine is, or is supposed to be. “Personalized medicine — or `precision medicine,’ as it has been termed by the (National Institutes of Health) — is a form of medicine that uses information about a person’s genes, proteins and environment to prevent (disease), diagnose and treat patients,” says Berta Strulovici, PhD, director of the Weizman Institute’s Nancy and Stephen Grand Israel Center for Personalized Medicine.
“In the future, this knowledge will give doctors the ability to assess medical risks and monitor and treat patients according to their specific genetic makeup and molecular phenotype,” she adds. This approach to medicine is proactive rather than reactive. Such a center is certainly needed to make personalized medicine a reality: a focal point for the vast technology, talent, and interdisciplinary cooperation that can tackle a discipline of such complexity.
That’s progress, but you’re still not going to find out any time soon that you are destined for heart disease or cancer because a molecular screening says so.
Here’s how the debate goes. Eric Topol, MD, the director of the Scripps Translational Science Institute, says in his 2012 book on the subject that the digital revolution will bring about the “creative destruction” of medicine as you know it. Technology, specifically wireless sensors or apps, combined with the study of genes, imaging, and social networks that concentrate on health, will bring about the personalization of drugs, devices, screening tests, and treatments.
On the other hand, the whole idea of personalized medicine “is a myth. It’s hyperbolic,” said Ezekiel Emanuel, MD, PhD, chairman of the department of medical ethics at the University of Pennsylvania, during a panel discussion in 2012 that included Topol. Emanuel added that medical treatments based on individual characteristics are too optimistic and too expensive.
Topol has countered that the promise of personalized medicine is already becoming intrinsic to today’s cancer research. Several cancer centers, including prestigious MD Anderson and NantHealth’s Patrich Soon-Shiong, MD, he notes, have been sequencing patients’ genomes to identify the first glimmer of tumors. Then, presumably, they can tailor a treatment rather than taking a shotgun approach with powerful drugs that have horrible side effects.
Emanuel, though, has pointed out that behavioral and lifestyle changes like a better diet, smoking cessation, and exercise — responsible for up to 60 percent of all disease — are likelier to influence longevity and affordable healthcare than genetics. Add myriad, complex environmental factors, and genetics becomes just another piece of the puzzle, wrote David Ewing Duncan in the MIT Technology Review.
In a review of a book by Francis Collins, commonly seen as the father of human genome sequencing while he was head of the Humane Genome Project, Duncan writes that Collins puts an “overwhelming emphasis on genomics as the language of life.”
“Each of us is born with a genetic blueprint, but this is meaningless for most common diseases without understanding the interaction of the environment and our personal genetic proclivities for either sensitivity to or protection from assaults from the world we live in,” he writes.
Given those factors, what’s missing from Collins’ determined continuing education (of you) on what genomics mean and what they might offer healthcare is a plan that fits all the puzzle pieces together, Duncan contends.
In any event, Topol believes his theory of positive disruption is already unstoppable. Personalized medicine is a matter of when, not if, he believes.
The irony of all this is that the pinpoint focus of personalized medicine will bring the family doctor back, says Jeff Balser, Vanderbilt University’s vice chancellor for health affairs.
“After having gone through a period where blockbuster drugs and massive screening were the norm, we are actually moving back to a place where we’re trying to tailor care to the individual. I try to think of this as not getting more high-tech and therefore more distant from the patient. Through technology we’re becoming more familiar with our patients as individuals and, along with that, always remembering to be personable — (a) Normal Rockwell (painting) with a DNA sequencer.”
May 05, 2015
Christopher Nystuen, MD, MBA