A few years ago, patients with amyotrophic lateral sclerosis (ALS, or Lou Gehrig’s disease) used Google to translate an Italian conference abstract suggesting that lithium carbonate might slow their incurable illness. Within months, 160 patients had obtained lithium off-label and were using Google Spreadsheets and the validated ALS “functional rating scale” to track their progress on the drug.
The online patient network, PatientsLikeMe, already allowed the reporting of functional rating scores for ALS. Responding to the patient-led effort, it quickly added tracking of lithium blood concentrations, data entry reminders, and monitoring by nurses to curate the side effects reported by patients.
Within nine months — blinding speed by academic standards — PatientsLikeMe published data indicating that lithium actually didn’t work for ALS. It then followed up with an open-access academic paper complete with a de-identified copy of the data set and full details of their statistical analysis. It was the first time that a peer-to-peer network evaluated a treatment in real time and refuted a clinical finding.
Four traditional, randomized controlled trials eventually confirmed the findings of the crowd-sourced, patient-led trial.
“Since the lithium trial in ALS, we’ve seen a number of patients attempt to work out whether clinical trials in which they’re participating might be working for them,” says Paul Wicks, vice president for innovation at PatientsLikeMe.
Wicks, in a 2014 essay in The BMJ, acknowledged that this sort of “patient disobedience” threatens the very nature of traditional clinical trials, which rely upon anonymity. “If we collectively do nothing, a Phase III study might be rendered scientifically null by a critical mass of participants making intentional protocol violations on PatientsLikeMe, Facebook, or Twitter,” he wrote. “This would be a tragic outcome. To prevent that, we propose forging a new social contract that maximizes both scientific discovery and patient autonomy, setting the stage for better trials with more engaged participants.”
People have been using the internet and social media to understand what ails them for almost as long as those technologies have existed. One in three Americans has used the internet to try and figure out a health problem, according to 2013 figures from the Pew Internet & American Life Project.
“When 99 percent of medicines are given, there is no systematic, quantifiable database into which patients’ experiences are entered.”
But as the era of personalized medicine continues, patients active online are beginning to move beyond community, advice, and consolation — as important as those things are. In an emerging movement, they’re beginning to pool medical data and genetic profiles, to parse literature, to advise researchers on how to design their studies and what to study, and to raise money for research or the genome sequencing of a particular patient. They’re posting their findings, their successes, and their challenges online.
A 2014 Institute of Medicine discussion paper found that more than 90 percent of patients are willing to share data if it might result in improved care, further research, and might help someone else.
At the same time, medical researchers — often very protective of the hard-won data that can make or break academic journal articles and careers — are beginning to share case studies and genetic profiles in large databases dedicated to solving some of medicine’s most confounding puzzles.
Most of these changes have only just begun, but they are baby steps that bring us closer to the ideal of “participatory medicine,” a world in which doctors not only seek patients’ opinions, but also recognize them as partners in the effort to find better treatments and collaborate with them on scientific projects. And since no great change ever comes about without some chaos, these hopeful developments also raise thorny issues of privacy, data ownership, and research standards.
Power to the Patients
Patient-centered social media sites are so far the most robust players in the field. Websites that focus on a particular disease, such as TuDiabetes (tudiabetes.org) for those with diabetes mellitus or TheBody.com for those with HIV/AIDS, have been around for years. Now, more broadly targeted sites are encouraging patients to share not just experiences, but data.
PatientsLikeMe brings together more than 250,000 people living with 2,000 conditions. The web portal offers tools to help patients track their health and to share that data with each other and with scientists and clinicians.
PatientsLikeMe collaborates with many biotech companies, including Merck, Genentech, and Novartis, as well as many research institutions, such as Harvard, Johns Hopkins, and University of California, San Francisco. This has resulted in more than 50 published research papers, advancing knowledge of maladies like epilepsy, Parkinson’s disease, ALS, multiple sclerosis, and others.
“We took a lot of inspiration from the work of HIV advocates in the 1980s who railed against the use of placebo in clinical trials by attempting to ‘hack’ the systems of the time,” says PatientsLikeMe’s Wicks. “I see the potential of the site as being a place where people can share data from many different data sources with other patients like them to improve their outcomes or to contribute to research.”
Amy Fees, a medical social worker living outside Austin, Texas, found out in 2011 that she has Fabry’s disease, a genetic disorder that damages the body’s ability to process fats and can result in a grab bag of symptoms — everything from heart attacks and strokes to pain in the hands and feet.
Fabry’s seems to have its roots in genetic mutations that affect the production of a particular enzyme. More than 300 different genetic mutations seem to result in varieties of the disorder. Fees came up with the idea of a database where Fabry’s patients could share their particular genetic mutation and their symptoms to help clarify what relates to what. PatientsLikeMe executives say they are consulting with their engineering department to figure out how to incorporate the database into the website.
“I hope this will offer some concrete data for Fabry’s patients, which is now lacking,” Fees says.
Other patient-centered sites include Global Genes, a California-based nonprofit that seeks to bring together those who suffer from rare diseases. Nearly 80 percent of the approximately 7,000 known rare diseases result from faulty genes. All told, approximately 30 million in the U.S. and 350 million worldwide suffer from these uncommon illnesses, making this population comparable to those who suffer from cancer or heart disease. Global Genes has brought together more than 500 rare disease organizations. It seeks to raise awareness and to help train advocates for rare disease populations.
“We develop tools and resources that help equip patients to become activists for their disease,” says Global Genes founder and CEO Nicole Boice. “Many of our advocates become subject matter experts due to their different experiences — successful start to fundraising, engaging academic researchers, driving legislation, creating new models of philanthropy.”
The St. Louis-based Rare Genomics Institute (RGI) also brings together scientists and those with rare diseases. It adds the ability for patients to do online crowdfunding, raising money for those who need genomic sequencing because they’ve yet to get a diagnosis.
“We’re trying to empower a bottom-up approach, the same way that Wikipedia changed how we look at encyclopedias,” says C. Jimmy Lin, founder and president of RGI. “The difficulty is that empowerment. A lot of people are getting their genome sequenced, but then they don’t know what to do with all that data. If you empower patients to do the first steps, then the researchers can pull everything together.”
So far, clinicians and researchers in the rare disease field have been some of the most willing to turn to social media tools for collaboration. And they’re most likely to be sharing case histories and/or genetic profiles.
Michael Brudno, a Stanford-trained bioinformatics specialist at the University of Toronto, first saw the need for this kind of tool when he was working in the Canadian rare disorder community.
“We were collecting all this data. Sometimes we could solve a case, but other times, we couldn’t because we didn’t know of another patient with that particular genetic problem,” Brudno says. “We needed a way to share our data with the rest of the world.”
So Brudno helped design a portal for sharing data, collaborating with Care for Rare programs in Canada and Australia, RD-Connect in Europe, and the National Institutes of Health Undiagnosed Diseases Program. The portal, PhenomeCentral, allows researchers anywhere to protect their data, while still sharing enough to be meaningful.
“We’re the broker. Whoever submits the data still owns it,” Brudno explains. “The dream is to connect our clinician portal with a patient site, to allow a patient to sign on, describe themselves, and then connect to other patients based on both self-described symptoms and a clinician’s profile of the case. The biggest challenges in accomplishing this are privacy issues.”
This pioneering field is moving fast: PatientsLikeMe is working with various patient groups to wear monitors that will track their health data. They’re designing new ways for patients to measure how treatments are working for them. RGI is working on building an ecosystem that empowers patients. They’ve recently acquired RareShare, a social hub of more than 900 communities for different rare diseases. They’re working with biobanks, registries, and scientific networks.
“The goal is to build an entire ecosystem where patients have all the tools necessary to catalyze research,” says RGI founder Lin.
Yet everyone in the world of online medical data sharing agrees that there are still difficult issues to resolve. How do you keep patient-driven research from becoming a DIY free-for-all? How can this data sharing also be rigorous enough for the medical establishment to take it seriously? How do you share genetic information while still protecting the real-world identity of the patient? Who exactly owns this medical data — the patient, the doctor, the medical institution? And what about the fact that medical privacy laws differ from country to country?
“[We need to] develop the language to speak to each other and understand each other’s needs,” says Gareth Baynam, a clinical geneticist and an associate professor at the University of Western Australia, a specialist in rare diseases, and an enthusiast for technology that is aligned to patient need. “Similarly, it will be important that tools for sharing information directly submitted by patients and that submitted by doctors and scientists can talk to each other.”
“The area of ‘citizen science’ or ‘participant-led research’ is both exciting and risky,” says Wicks of PatientsLikeMe. “But what’s most galling when people criticize citizen scientists is this: At least they’re trying to measure outcomes. When 99 percent of medicines are given, there is no systematic, quantifiable database into which patients’ experiences are entered. It’s only in the rarefied setting of clinical trials where data is meaningfully collected. That’s why we’ve seen the failure of comparative effectiveness research and to some extent the failure of evidence-based medicine to really help take decision-making about medicine to the next level.”