Precision Medicine: Crowdsourcing a Cure
By Kaitlyn Landgraf
Big-data metrics today are ubiquitous, accessible to anyone with a smartphone, and targeted precisely to our needs, but there’s one data set to which individual Americans have little or no access at all, one that can be a matter of life and death. By default in nearly all 50 states, patients do not own their health data, which is instead guarded by doctors and medical providers. Friday’s morning session at Medicine X featured a panel of five researchers, doctors, and patients exploring the idea of precision medicine: granting patients access to their own health records and data, and enabling them to share that information with others. What kinds of advances in research, care, and patient engagement would result, they asked, if silos of scientific information were replaced with transparency? Competition with collaboration? What if patients were the key decision-makers who drive research about their own bodies?
Steven Keating, a graduate student in mechanical engineering at MIT, began asking these questions last summer when doctors removed a tumor the size of a nectarine from his brain. During his treatment, Keating donated some of his brain tissue to research and permitted his entire genome to be sequenced. “What did I learn?” he asks. About 100 gigabytes of information, which he’s made publicly available on his website. But the more important question for Keating is what he didn’t learn. “How come I donated part of my brain tissue, but I can’t see that research?” he asks. “I still don’t have access to my whole genome sequencing data. My doctor and university did, but I still don’t.”
Granting patients full access to their medical files, he argues, would speed up the process of finding cures for diseases and would engage patients in caring for their own health. He envisions a user-driven database of health metrics that not millions, but billions, of people would have full access to, “like a Facebook with a ‘health’ tab.”
That’s exactly the type of dream that Claudia Williams, the White House’s Senior Advisor for Innovation and Technology, is working to make a reality. In January, President Obama launched a precision medicine initiative intended to empower patients, researchers, and health care providers to work together. The aim of the initiative is to assemble a million-person cohort of patients and volunteers who share and have access to their own medical data for the sake of research and medical process. This initiative, Williams says, would transform patients into “partners and co-investigators” in the scientific research process.
Dr. Matthew Might of the University of Utah is not a doctor by training, but a computer scientist. But when doctors diagnosed his son with the first, and to their knowledge, only instance of a genetic mutation, he launched a mission of “flipping the scientific process from closed to open, from flipping competition to collaboration.” He calls this “algorithm medicine,” when patients and researchers work together to create a dynamic and ever-growing network of data and people with the common goal of creatively finding cures to rare diseases. This isn’t possible, though, he argues, without first pulling down the pay walls that guard access to so many scientific journals where key research is hoarded instead of shared.
After Keating, Williams, and Might addressed the audience, panel host Andrea Downing sat down with them, along with Emily Kramer-Golinkoff, who suffers from a rare form of cystic fibrosis, and Euan Ashley, a Stanford Cardiologists and geneticist. Together they discussed questions surrounding precision medicine, including the issue of security. With hacking so common, how do we protect patients’ medical records from being stolen if we make them widely available? That question should be up to the people who own the data, Kramer-Golinkoff argues–the patients themselves. There are patients who are desperate to collaborate with the researchers who may be close to unlocking the secrets to their cures. Patients like her, she says, are literally “dying to help.”
In the current health care system, patients are denied access to their own health data and prevented from making decisions about how much risk they want to take in treating their diseases. “We don’t give people enough credit for understanding uncertainty in the world,” Euan argues. Patients should be entrusted with deciding how much risk they want to take for the sake of finding a cure.
“What is it going to take to deliver the right medicine, at the right time, to the right patient?” Might asks. “The practice of precision medicine.” And for these men and women, and millions of others across the globe, the right time is right now.
Kaitlyn Landgraf is a graduate student in the department of journalism at Stanford. She previously attended Thomas Aquinas College and Yale University, where she studied philosophy and religion. Follow her on Twitter at @KaitlynLandgraf.