Health Hackers and Citizen Scientists Shake Up Medical Research

Kent Bottles

Posted 12/05/11 at Kent Bottles Private Views

Whether you call it Health 2.0, Medicine 2.0, or e-Health 2.0, the Internet is changing medicine in ways that challenge the status quo. This article explores how a group of amateurs who call themselves “health hackers” and “citizen scientists” are trying to use the Internet to connect with other patients, run experiments, and conduct clinical trials on their own diseases.

Dr. Gunther Eysenbach states “Medicine 2.0 applications, services and tools are Web-based services for health care consumers, caregivers, patients, health professionals, and biomedical researchers, that use Web 2.0 technologies as well as semantic web and virtual reality tools, to enable and facilitate specifically social networking, participation, apomediation, collaboration, and openness within and between these user groups.” One review examined 46 different definitions of Health 2.0, and Eysenbach’s definition does not emphasize a key component of the concept:amateurs can use these new Internet tools to do work that in the past was only done by professionals. (1)

A dramatic example of patient-initiated research highlights the moral and medical implications of changing the way that traditional scientific research is conducted. In 1995, Jeff Getty, a late stage AIDS patient and AIDS activist, was the driving force behind personally receiving a xenogeneic baboon bone marrow transplant with the hope that the baboon’s natural AIDS resistance would save his life. Although the baboon marrow cells did not grow in his bone marrow, Getty seemed to improve and lived until 2006 when he died of heart failure after treatment for cancer and AIDS. (2) AIDS patients were among the first to self organize, review the scientific literature, choose treatments, and demand research. (3)

An abstract at the 1996 International Conference on AIDS stated that the Getty experiment discovered that “aggressive patient involvement from the earliest stages of scientific investigation can aid cutting edge research; regulatory obstacles can be overcome and the research process can be expedited.” (4) Dr. Steven Deeks of UCSF who led the Getty experiment stated, “Jeff was just hanging on to his life. He inspired us that a risky and aggressive intervention was worth a try.”(2)

Others worry that patient-initiated research may not generate scientifically valid conclusions about treatment. Harlan Krumholz, a cardiologist at Yale, is supportive of individual patients learning about what helps them cope with their disease, “but to find something that I can put in a textbook and encourage everyone to offer to patients requires a stronger evidence base.” (5) Citizen scientists may not collect data rigorously enough or may not understand how to interpret statistically reliable results. The complex rules governing bias, conflict of interest, informed consent, access, and privacy that Institutional Review Boards (IRBs) insist that academic researchers follow do slow down studies. But, these rules also protect patients from receiving treatments like bone marrow transplantation for advanced breast cancer and thalidomide for nausea that harm patients.

The Life Raft Group is a nonprofit online for patients with gastrointestinal stromal tumors (GIST) tumors; by encouraging patients to have their tissue tested for the c-kit mutation, they have identified many patients whose tumors in the past were misdiagnosed as leiomyosarcomas with a poor prognosis. The Life Raft Group also receives funding from the pharmaceutical industry and so conflict of interest and bias may be hard to exclude from their work.

Charles Blanke, MD, Director of Gastrointestinal Oncology at the Oregon Cancer Institute summarizes the advantages and disadvantages of their patient-initiated approach:

“This is powerful and compelling work! I remain incredibly impressed by the data-coordinating abilities of the Life Raft personnel. I see the major purpose of this sort of data as hypothesis generating. Unfortunately, it cannot be free of bias and thus cannot stand by itself, but it certainly can point investigators and the Company in the right direction and let us know what we need to be looking at more closely. Thus, its importance cannot be overstated. (6)”

PatientsLikeMe is an online amyotrophic lateral sclerosis (ALS) community that reported on how news of a small Italian study using lithium to treat the disease was diffused through the community and led to a patient-driven observational study of lithium and ALS. The study concluded, “Patients with few options will not wait for normal science to design studies, recruit patients, measure, analyze, and report.” They also noted that some worried that such research “may not be reliable or credible.” (7)

The skeptics point out the case of Neurontin, an anti-seizure medicine, which was touted on the 23,600 ALS disease sites as possibly beneficial. So many patients started taking Neurontin that scientists conducting trials of two other drugs had trouble finding enough patients for their control groups. When Neurontin was finally studied, it failed to benefit ALS patients. (8)

Sharon Terry, vice president for consumers of Genetic Alliance and founder of PXE International, has tried to bridge the gap between traditional science and patient-initiated research. When her two children were diagnosed with the rare disease PXE (eye diseases, heart disease, and gastrointestinal bleeding), she raised money for research, established a registry with 2000 patients, created blood and tissue banks, and published 83 peer reviewed articles with medical professionals. Reacting to some scientists who did not like sharing data with others, Terry and the University of Hawaii researcher who discovered the PXE gene using PXE International donated tissue filed a joint patent application. Terry says, “Any successes belong to the patients, not to an individual scientist or hospital.” (8)

Another example of online communities working with traditional scientists has been the two new Mayo Clinic studies of Spontaneous Coronary Artery Dissection (SCAD), a rare and poorly understood heart ailment. Using social media tools like Facebook, twitter, and YouTube, Mayo Clinic is building a database of SCAD patients and a biobank of blood samples from patients with SCAD and their close relatives. (9) Laura Haywood-Cory and Katherine Leon initiated the SCAD research after they connected on an Inspire moderated online community. (10)

The experience of Melanie Swan who has developed a smartphone app to allow patients to identify correlations between drugs and genes highlights the tension between citizen scientists and academic researchers. When she presented her data on vitamin B and homocysteine levels to a Scripps Research Institute Conference, many of the participants labeled her work “soft” science.Dr. Eric Topol of Scripps who is a supporter of patient initiated research noted, “The bar has been raised considerably for what scientists deem acceptable evidence for making changes to one’s health.” When Swan went back to her online community to suggest a more rigorous approach, many of her fellow citizen scientists did not want to introduce so much bureaucracy. (5)

The first page of the CureTogether website invites the visitor to “get access to millions of ratings comparing real world performance of treatments across 589 health conditions.” There is a report on what treatments 800 arthritis patients find most useful; 2,800 patients with acid reflux disease share their experience with various medications; another section documents the experience of 29 patients with Crohn’s Disease. One patient is quoted on the site as saying, “I just wish doctors got this information and applied it.” (11)

The tension between the traditional approach to medical research and patient-initiated research can only be resolved by cooperation and two-way communication between the two groups. The Mayo Clinic and PXE examples clearly show that both groups can benefit by meaningful and respectful partnership. The AIDS and ALS examples demonstrate that patients with few options and new Internet tools will continue to push the traditional research community to be open to new ideas, new approaches, and new possibilities. Gilles Frydman, founder of the Association of Cancer Online Resources, has stated, “Better-informed people are more willing to participate in the advancement of science. Those patients taking Gleevec do not consider themselves guinea pigs. They are recipients of experimental medicine.” (8)


  3. Epstein S. Impure Science: AIDS, Activism, and the Politics of Knowledge. Berkeley: UC Press, 1996.

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