Science of the masses

Ordinary people are taking control of their health data, making their DNA public and running their own experiments. Their big question: Why should science be limited to professionals?

More than a decade ago, in hopes of advancing research on the rare genetic disease that afflicts her children, Sharon Terry let two different researchers draw their blood for study. But when she asked for the results of the investigations, the scientists gave her a startling response. Information generated from her own children’s DNA, they said, didn’t belong to her.

“It’s my data,” says Ms. Terry, who is now president and chief executive of Genetic Alliance, a network of organizations that do research, advocacy and education around genetics, in Washington, D.C. “But it gets locked away in some database that I can’t get to.”

Today, Ms. Terry is part of a growing movement to unlock medical secrets by empowering patients to gather, control and even analyze their own health data. For some people, that means posting detailed personal information, family histories and genetic test results online for all to see. Others may decide to make public only limited information or to grant access exclusively to researchers who agree to share the results of their studies.

Members of this loose collective of amateurs, who call themselves “health hackers” and “citizen scientists,” also perform their own analyses and use the Internet to create and run experiments and clinical trials. They all believe that too much science happens behind closed doors.

The efforts are varied. Some include small groups of people who either know each other socially or met online. Their experiments explore issues like preventing migraines, improving sleep and testing the effectiveness of vitamins. There are now a number of companies dedicated to helping citizen scientists devise experiments, and medical journals are publishing the results of their trials.

Ms. Terry’s run-in with research scientists led her to start a patient-run database to collect the medical data of people with her children’s disease—PXE, which can cause vision loss and other serious problems. After posting information about the data bank on the Web, she put together kits with blood vials and FedEx envelopes and distributed them to participants. They, in turn, took the packages to their doctors, had blood drawn, and then sent the samples to a central lab, where they are available to researchers willing to disclose their findings.

She is now helping to run another effort, launched earlier this year, that is even more far-reaching. Called “That’s My Data!” it aims to facilitate the flow of patients’ detailed genetic data to researchers in exchange for open access to the results for those who contributed samples.

The controversial notion that people with no formal scientific training can make meaningful research contributions arose a few years ago, prompted in part by new, inexpensive DNA tests intended for consumers.

Another catalyst was a simple clash of perspectives. The questions that most people have about their DNA—such as what health risks they face and how to prevent them—aren’t always in sync with the approach taken by pharmaceutical and academic researchers, who don’t usually share any potentially life-saving findings with the patients.

Increasingly, the outside-the-system approach seems to have reached a turning point. In talks at national conferences, in webinars, blogs and articles, more people are starting to ask: Is science really something anyone can do?

Critics of this new wave of citizen scientists point to several potential problems. Amateurs may not collect data rigorously, they say, and may draw conclusions from sample sizes that are too small to yield statistically reliable results. When an individual patient determines that something is making him feel better, “that’s great,” says Harlan Krumholz, a professor at Yale School of Medicine, “but to find something that I can put in a textbook and encourage everyone to offer to patients requires a stronger evidence base.”

Having individuals collect their own data poses other issues. Patients may enter data only when they are motivated, or feeling well, rendering the data useless. In traditional studies, both doctors and patients are typically kept blind as to who is getting a drug and who is taking a placebo, so as not to skew how either group perceives the patients’ progress.

Others fear that patients may decide to take over-the-counter medicines or supplements based on unsupported data, then fail to tell their physicians. “I think the medical specialist always has to be there,” says Ardis Hoven, past chairwoman of the American Medical Association’s board of trustees.

In traditional studies, scientists guard their data from outsiders for several reasons. They fear that someone else might take that data and publish a finding ahead of them, taking credit for their discoveries. Even after a study is done, they often prefer to keep the data private, for any potential future discoveries. It’s all part of the effort to advance in the field, establish a reputation and get grants.

Ms. Terry has attained a measure of legitimacy among scientists by working at times with trained professionals. When a paper about mammograms for PXE patients was published in 2003, Ms. Terry was listed as one of the co-authors—and hers was the only name without an M.D. She now has 83 peer-reviewed published papers for which she is either the author or co-author.

Citizen-science projects don’t fall under the purview of the Food and Drug Administration, since they generally don’t involve testing or developing anything new—such as a new drug, medical device or diagnostic test. The experiments usually test things like vitamins that are already FDA-approved or sold over-the-counter.

Earlier this year, prompted by the growing availability of consumer DNA tests, the American Medical Association sent a letter to the FDA saying that genetic testing should only be done with the guidance of a doctor or trained genetic counselor. Doctors worried that people might not understand the genetic information being explained to them.

Scientific research wasn’t always considered the domain of professionals. In the 1700s and 1800s, most people practicing science made a living in other fields. The classic example is Benjamin Franklin, who was a printer, publisher and public official but still made key discoveries in electricity. Others conducted experiments at home or in labs that were funded either by themselves or by wealthy supporters.

In the 19th century, science became increasingly professionalized. Many practitioners saw that to improve the quality of their work and to take on bigger projects, they needed to go beyond basement tinkering. Support emerged for training scientists at universities, creating professional societies and seeking sustained financial support from the government to tackle important public issues.

Melanie Swan, an investment adviser in Silicon Valley, is one of the citizen scientists questioning the traditional approach. She has written a smart-phone app that lets users study their genetic data to find any correlations between known efficacy rates for drugs associated with certain genes. Ultimately, she says, the goal is to help patients tailor their own treatment plans.

Last year, Ms. Swan helped to run a small trial to test what type of vitamin B people with a certain gene should take to lower their levels of homocysteine, an amino acid connected to heart-disease risk. (The gene affects the body’s ability to metabolize B vitamins.)

Seven people—one in Japan and six, including herself, in her local area—paid around $300 each to buy two forms of vitamin B and Centrum, which they took in two-week periods followed by two-week “wash-out” periods with no vitamins at all.

Ms. Swan found a deal at a lab offering cut-rate prices on blood tests, and subjects went each week to have their blood tested for homocysteine levels. They uploaded all of their results to an online wiki.

In March, Ms. Swan gave a talk at a genomics conference at Scripps Research Institute in San Diego, explaining the trial to a group of scientists. “It was rigorous experimentation,” she says of the protocol that they put together and had reviewed by two professional scientists.

The scientists clapped politely at the end of Ms. Swan’s presentation, but during the question-and-answer session, one stood up and said that the data was not statistically significant—and it could be harmful if patients built their own regimens based on the results.

“Melanie did a good job presenting information,” says Eric Topol, director of the Scripps Translational Science Institute, who invited Ms. Swan to speak. He believes citizen science has “extraordinary” potential. Still, he says, many of the attendees considered Ms. Swan’s experiment to be “soft” science.

“The bar has been raised considerably for what scientists deem acceptable evidence for making changes to one’s health,” says Dr. Topol.

Ms. Swan acknowledges that citizen scientists need to start running trials with much larger numbers of people to insure better accuracy. “It’s not enough to study our own data, run our own trials, if the results don’t change science,” she says.

Yet striking a balance between the two worlds can be tricky. Undaunted by her reception at the conference, Ms. Swan went back to the other participants in the trial and suggested that they pursue a more professional tack—including getting approval for the next phase of the trial from an institutional review board, just as traditional studies do. The effort fell through when some of the participants felt Ms. Swan was introducing too much bureaucracy.

Citizen scientists “are trying to turn that on its head,” says Raymond McCauley, who had come up with the idea for the vitamin study with Ms. Swan and works for a start-up that helps groups run their own studies and trials. “We are making a decision as a group to try to see what works and what doesn’t work and sharing the information. We didn’t want another hoop to jump through just to figure out if something works.”

Joseph Kvedar, a physician who founded and directs the Center for Connected Health at Partners Healthcare in Boston and who supports citizen-science efforts, says he worries that the more citizen scientists adopt the traditions of mainstream science, “the more you will choke off creativity and innovation.”

Stephen Friend, who runs “That’s My Data!” with Ms. Terry, came up with the project’s name earlier this year because, he says, “it reflects the absurdity of the current situation.”

A pediatric oncologist by training, Dr. Friend co-founded Sage Bionetworks in Seattle after many years in the pharmaceutical industry. His mission was to build a neutral place where data could be collected and anyone could leverage it to make discoveries—including patients.

Earlier this year, Dr. Friend convened a meeting in Toronto with 60 academics, scientists and patients to discuss ways to work together. One participant was John Wilbanks, who earned a degree in philosophy from Tulane and went on to run Science Commons, which focuses on getting scientists to collaborate by signing agreements to exchange research data.

Mr. Wilbanks hopes that more collaboration between citizen and professional scientists will lead to discoveries to benefit his sisters, one of whom is profoundly autistic, while the other has a very aggressive form of arthritis.

“To help people like my sisters, there needs to be a large enough sample of people who contribute genomic information so we can draw statistically significant inferences,” says Mr. Wilbanks. “Privacy law stands in the way of getting a million full genome sequences and a million full sets of phenotypes of those individuals.”

Mr. Wilbanks, who recently left Science Commons, created a standard consent document that will allow people to agree to let their genetic data be studied by anyone who is interested—as long as the investigator shares the results.

The first project that will use the documents involves a group of patients with rheumatoid arthritis. Dr. Friend found a company willing to sequence the patients’ entire genetic codes for free. The patients will sign Mr. Wilbanks’s consent form, enabling them to share their medical information with the professional scientists attending the next Sage conference next year. The data will be studied to uncover genetic differences that might explain why some people respond to standard medications and some do not. Any correlations found will be shared with the patients.

The endpoint of the project was devised by both citizen and professional scientists working with Sage. Dr. Friend says he hopes that the patients will use the results to fuel their own follow-up experiments.

“We want to show patients what can be done,” says Dr. Friend. “This will point the direction to the next experiment.”