Citizen Scientists Take On the Health Establishment - WSJ.

com#printMode Page 1 of5

Dow Jones Repnnt s. ThIs copy is ror your personal , non ccmmerciaf use Or Ily. To order pl'esent.a1lon-ready copies for dist ribution to your co leagues, chents or customers
use Ihe Order Reprints 1001 al IIl e bottom 01 any artIcl e or v,Si! VlWW djreprinls.com
See a sample repri nl in PDF l onma!. Order a reprinl of this articl e now
THE WALL STREET JOURNAL.
VVSlcom
THE SATURDAY ESSAY I DECEMBER 3, 201 1
Citizen Scientists
Ordinary people are taking control oftheir health data, making their DNA public and running their own
experiments. Their big question: Why should science be limited to professionals?
By AMY DOCKSER MARCUS
More than a decade ago, in hopes of advancing research on the
rare genetic disease that afflicts her children, Sharon Ten}' let
two different researchers draw their blood for study. But when
she asked for the results of the investigations, the scientists gave
her a startlingr-.esponse. Infonnation generated from her own
children's DNA,they said; di'dn't belong to ber.
"It's my data,'i 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 infonnation 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
perfonn 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
http://online.wsj.com/artic1e/SB1 0001424052970204621904577014330551132036.html?.. 12112/2011
Photo ill ustration by Keit h Webb
'They have one thing in common: They believe that
too much science happens behind closed doors.'
Ari Mei sel suffered from the symptoms of Crohn's
Disease for years before he deci ded to overhaul his
health-care regimen. He's part of a movement of citizen
Citizen Scientists Take On the Health Establishment - WSlcom#printMode Page 2 0[5
scientists who are turning their bodies - and their lives
her children's disease-PXE, which can cause vision loss and
into personal laboratories. WSJ's Christina Tsuei
reports.
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 polential problems. Amateurs may not collect data
rigorously, they say, and may draw conclusions from are t06 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.
htlp://online.wsj.com/article/SB 1 0001424052970204621904577014330551132036.html?.. 1211212011
Marc Ninghetto for The Wall Street Journal
'It's my data,' says Sharon Terry, a proponent of more
open research. 'But it gets locked away in some
database that I can't get to.'
Citizen Scientists Take On the Health Establishment - WSJ.com#printMode Page 3 of5
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. mtimately, 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.) L
Seven people-one in Japan and six, including herself, in 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 agenomics 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.
Among the problems: Amateurs may not collect data rigorously, and
sample sizes can be small.
http://online.wsj.com/article/SB 1 0001424052970204621904577014330551132036.html?.. 12112/2011
Citizen Scientists Take On the Health Establishment - WSJ.com#printMode Page 4 of5
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 acadeJUics, scientists and patients to discuss
ways to work together. One participant was John Wilbanks, a degree in philosophy from Tulane and
went on to run Science Commons, which focuses on getting sCie'otists 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."
Copyright 2011 Dow Jones & Company, Inc, All Rights Reserved
This copy is for your personal, non-commercial use only. Distribution and use of this material are governed by our Subsctiber Agreement and by
copyright law. For non-personal use or to order multiple copies, please contact Dow Jones Reprints at 1-800-843-0008 or visit
http://on1ine.wsj.com/artic1e/SB10001424052970204621904577014330551132036.htm1?... 12112/2011