There’s a whole lot of hype around precision medicine.
Proponents — up to and including President Barack Obama — predict a revolution that will bring us medical treatments as precisely tailored as a bespoke suit: Drug doses adjusted to your genome. Chemotherapy customized to your tumor’s DNA. Diets adapted perfectly to your risk for diabetes.
To propel research, Obama has proposed spending a $215 million on a Precision Medicine Initiative. The first step: Rally 1 million volunteers (or even more) to give up a slew of intimate details about their health, medical history, diet, lifestyle, genetics — and even the granular details of the bacteria that line their guts.
The National Institutes of Health recently awarded $120 million to the Scripps Research Institute in La Jolla, Calif. to create mobile apps, web platforms, biosensors, and other tools to collect and analyze data on those volunteers. Scripps will also directly enroll 350,000 of them.
Leading the effort is Dr. Eric Topol, 62, a cardiologist and geneticist known for his prolific tweeting, rapid adoption of technology, and vociferous criticism of traditional medicine as antiquated and inefficient. STAT spoke to Topol as he was recovering from a knee replacement surgery — and complaining that the crutches he’s using haven’t changed since the Civil War. This transcript has been edited for length and clarity.
How do you combat fears that people will be devastated, or perhaps give up trying to be healthy, if they learn they’re at elevated risk for a disease?
This is medical paternalism personified.
Every time I talk to someone in medicine, they say, “Oh the patient isn’t going to be able to handle this.” But many studies show that people handle genetic info — even if it contains bad news like an increased risk of Alzheimer’s or the BRCA1 gene [that brings increased risk for breast cancer]. They handle it well and want the information.
You’ve criticized medicine for not adopting technology, such as biosensors, that can monitor around the clock. But many clinicians advocate less testing, not more, because false positives can take a toll.
Right now, we do willy-nilly testing and we have profound waste: very high false positive rates for mammograms and [prostate cancer] tests and on and on. It’s part of one-size-fits-all medicine. We’re going to develop a whole new body of medicine [that’s] much more intelligent.
I consider precision medicine digitizing you and me: Getting extraordinary deep, rich data about each person so you can come up with better prevention, screening, and treatment.
What do you say to clinicians who say it’s still far more effective to get patients to stop smoking, lose weight, and exercise than to sequence genomes?
Look, we’ve had all this risk factor and lifestyle knowledge for decades. Do we have everybody practicing a healthy lifestyle? No. I don’t want to diminish the importance of it, but a lot of people have the healthiest lifestyle in the world and they get struck by things like autoimmune diseases and Alzheimer’s.
It’s not either/or, but we need to take advantage of the fact that we can know so much about any given human being — what they are at risk for, or the environmental factor that’s causing the risk.
This is a new day. This is a reset, a reboot of what we thought about medicine, and it’s all predicated on what we know about individual people.
Some public health experts worry that precision medicine initiatives are likely to benefit only the wealthy and insured.
That’s a misconception. We’re going to make darn sure that we have people included of all socioeconomic classes. We want to have all different ways to identify people and get them enrolled — going to people’s homes to enroll elderly people, enrolling people at blood banks where people volunteer to sell their blood.
We acknowledge that this is a challenge and we’re pulling out all the stops.
Biotech stocks have been in a slump. Innovation requires investment, so should we be worried?
What’s nice about [precision medicine] is that you can have much smaller clinical trials, which are much more efficient.
We have too many treatments out there today that have marginal efficacy that are being applied widely. We need to develop treatments that are far more likely to succeed in a smaller swath of people. This model is going to make biotech investment continue to be attractive.
Isn’t it true that for many common diseases, such as diabetes, there are hundreds of gene variants that might not be clinically significant? Are genomes still too complicated to yield helpful information?
Genetic information is just part and parcel of the story. … Today, the thing you get most out of a sequence are these “variants of unknown significance.” The more people that are sequenced, the fewer of these there will be. I’m not saying we’re going to be crossing this great threshold of knowledge that’s just around the corner, but we’re going to get better and better and better.
It’s not just about genetics. Even things like blood pressure — we don’t know what normal blood pressure is because it’s just one measure taken at a doctor’s office. With biosensors, we can measure blood pressure when you’re in traffic, when you’re having an argument — and find out what truly normal blood pressure is.
How do you manage all the egos working on the Precision Medicine Initiative?
This is always an issue in academic circles … [But] the researchers who have been selected to work on this are people who are committed to open platform, open science, and open data. There is no data that is going to be kept in some hermetically sealed place. The data that is generated is going to be shared with the entire research community.
What are you most excited about in precision medicine?
Back in the 1940s … the Framingham Heart Study [was launched]. One little study — 5,000 people, predominantly Caucasian — had more impact than any other study ever done about the heart.
We are about to embark on something that is not 5,000 people but 1 million, not one condition but all conditions, not one ancestry, but many.
To me, this is unprecedented. It’s a turning point in medicine.