"e-Patients," Chapter 5: e-Patients as Medical Researchers

Chapters 3 and 4 gave examples of the many ways e-patients are creating value for themselves and each other online, outside of (and augmenting) the conventional channels of treatment. I had personal experience with that, but Chapter 5 adds an eye-popping dimension: e-patients who have, in the absence of medical data, initiated their own research project.

I call this the "lethal lag time" chapter, because that was the #1 eye-popper for me personally - not because of the existence of the lag, but because it had never occurred to me that lay people could make a difference there. But that was before I got the concept of "empowered patients." And the lethal lag is only one issue. These stories blow me away.


Chapter 5: e-Patients as Medical Researchers

• Andy Martin, the e-patient who became a clinical researcher, studying his own cancer, and became the first person ever to successfully grow his type of cancer cells in a lab.
  
• From passive patients to active researchers: "Few if any researchers had considered the possibility that patients might be able to do real medical research-conducting experiments, collecting and analyzing data, and reporting significant and valid conclusions. Not until the Internet made it possible for large groups of patients with the same health concern to share their clinical experiences did the potential role of e-patients in medical research become apparent." (Did you know it was patients, not doctors, who discovered the sexual effects of Viagra?)
  
• The Life Raft Group: a research-oriented online support community: After his wife is misdiagnosed then correctly diagnosed with a cancer that had no known treatment (GIST), a researcher starts a private group of skilled professionals who are also personally involved with the disease.
• Bypassing the "Lethal Lag Time":
• After a medical breakthrough occurs, it takes years (often 2-3, up to 5) for the world to hear about it - even doctors. In my view this aspect of the established peer-reviewed publication process causes harm. It's truly a lethal lag.
• Patients can spread the word. I see this all the time on ACOR, as patients tell each other to inform their doctors about new developments.
• Note: there's nothing arrogant about doing that. Remember from Chapter 2: "Clinicians can no longer go it alone." If you want, review the full text of that section.
• More astounding is something that's not in this paper: the lag from concept to putting results in practice is 17 years. (I've heard that repeatedly; I'm looking for the source data.) Can't quite believe it? Read the steps a study has to go through.
  
• Parent-initiated research on reflux: Two mothers of children with gastroesophageal reflux disease (GERD) set out to determine whether the condition is genetically transmitted. Established researchers turned them down; they persisted, gathering more data and finding similar families. They succeeded: in 2000 JAMA published their results.
  
• Jannine and Liz Cody: Told in 1985 that nothing could be done for her newborn Liz's condition (chromosome 18 deletion which leaves patients hard of hearing and retarded), Jannine Cody studied and studied, and eventually figured out that human growth hormone might help. This led to research showing that HGH does help hearing and can bring an IQ increase of 47 points.
  
  Updates (not in the EP white paper):
• Liz, now 23, is attending San Antonio Community College
• A few weeks ago Jannine received this year's Founder's Service award from the Genetic Alliance.
• During the course of all this, Jannine decided to get a doctorate in genetics, and is now an associate professor at UT San Antonio.
  
• Portia Iversen Tackles Autism (1995)
• "At first [they] tried to persuade autism researchers to share their DNA samples with other scientists. But the researchers weren't about to turn their hard-earned results over to their competitors. 'They had their own agenda. And it didn't always lead to getting new treatments out to the people who needed them ASAP.'
• So, they started their own tissue bank, which is now the world's largest autism gene bank. Work using this gene bank is hailed by NIH Director Elias Zerhouni as "revealing clues that will likely influence the direction of autism research for years to come."
  
• Parent Expertise on PXE:
• Finding that their children have a rare genetic disorder, and medical science is doing nothing for it (I guess because of its rarity), parents start a tissue bank themselves and eventually find the gene that causes the condition, which "the establishment" hadn't achieved.
• They learned that in other cases where parents had helped researchers, the researchers sometimes patented the gene that the parents helped find, thus hampering other research. So these parents patented the gene themselves, to keep any doctors from doing so. Huzzah! Whose genes are they, anyway??
  
• e-Patients' role in future medical research

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Key take-aways, for me (not listed in the paper):

• The medical establishment, for all its wonderful achievements (including saving me), is nowhere near as almighty as I once thought
  
• The careful, methodical process that we use to accumulate medical knowledge carries what can be enormous costs and penalties:
• It takes a long time for information to be developed and propagated
• That makes the process very costly, which marginalizes less "popular" conditions.
• Consider Randy Pausch's testimony before Congress (see his 8 minute YouTube) about how his cancer, pancreatic, could be figured out if we had the will: he said “Let’s face it,” explaining his determination to make the trip and testify. “The only way you get funding is to rattle a lot of cages.”
  
• Because of the Internet, e-patients now have the ability to connect with people around the world and become their own aggregators of information - and keep it out of the hands of professionals who would prefer to make it their own, to the detriment of the patients they're sworn to serve.

This is really starting to sound like patient empowerment, isn't it? You might want to review the two graphics at Steal These Slides again - and bear in mind that DocTom published those slides in 1995, when the Web was just a year old. Visionary.

Next: Chapter 6, Learning from e-Patients.