I2B2 and Health Information Altruists
Informatics for Integrating Biology and the Bedside (I2B2) is a multi-year program that aims to learn about the genetic underpinnings of several common conditions (including asthma, hypertension, and diabetes) by mining the medical records of several million patients in the Partner HealthCare system.
Using electronic health records for medical research is still in its infancy, but will someday provide a powerful boost to the acceleration of medical discovery. The ability of Kaiser Permanente to identify that there was a problem with Vioxx
early-on by performing adverse reaction
epidemiology using the health insurer’s electronic patient data is an illustrative example of how electronic data on a population scale might contribute to consumer health (even in near real-time).
With projects like I2B2 it may be possible for consumers to contribute to the health of future generations, or even see returns on health in their own lifetimes, with minimal engagement — compared to pariticipating in a clinical trial for example — as long as they choose to share their personal information.
”If we could use routine clinical care to generate new findings
without having to do multimillion-dollar studies, that would be a true
change in the way medical discovery is done," said Dr. Isaac Kohane, an
associate professor at Harvard Medical School who is one of the
project’s directors. ”We want to use the healthcare system as a living
laboratory…Ultimately…the public will have to decide: Do they want research done this way or not?"
We have reached a point where genotypic data is much less an issue than in the past with the advent of new sequencing technologies and the rapid decline in costs per base pair. The rapid decline in the cost of sequencing should be celebrated (and nourished further), but the reality is that sequence data alone is far from even good. To provide real insights that will improve human health, this data needs to be tied to health information, i.e. phenotypic data. The real bottleneck and financial hurdle now is to get good phenotypic data. And lots of it for lots of different types of people.
So, the solution is simple right? Set-up a website, pass out colored ribbons, print t-shirts, host an awareness campaign (marathons, fund-raisers, etc) and just ask consumers to volunteer their personal health information. It is, after all, for the benefit of human health the world-over. As a sweetner (as if human health isn’t cause enough), researchers might promise volunteers complete confidentiality and anonymity. While most people could care less if their height, age, and serum iron levels were, in some form, public knowledge, there are other types of personal health information that can carry stigma (think HIV, STD, OCD) or might compromise the privacy of family members (i.e. genetic information).
There’s the rub. It is increasingly clear that health information confidentiality and anonymity are promises that researchers will be unable to uphold, even when the information is de-identified. So, when researchers call for volunteers to submit their personal health history to projects like I2B2, they can’t make guarantees that this information will remain totally private.
Isaac Kohane and colleauge Russ Altman proposed a solution in a recent article in the New England Journal of Medicine: health information altruists. From the article:
…large-scale studies of genotype and phenotype should specifically seek out volunteers who are information altruists. The guarantees made to these subjects about the risks of re-identification can then be more realistic. The potential damages can be outlined, but the subjects presumably will elect to take the risk in the hope of helping to address human disease…
In the same paper, the authors outline three steps to make projects like I2B2 more practical:
- "rules could be implemented to make it illegal to link health information contained in research databases to other data resources, so as to prevent the inference of individual information outside the scope of the original informed consent…"
- "researchers who curate genetic databases should have some protection for their activities, provided that they follow an agreed-on set of operating guidelines…"
- "most important, patients should be granted explicit control over the disclosure process. They should be able to indicate the types of users who can see their data, and they should be able to request lists of those who have seen it…"
The next step is to set-up pilot studies and see just how many people will volunteer provided fewer promises of privacy.
My take: Tapping all the health information altruists out there is great way — if not the only way — to get started at the moment. I think there are lots of people to keep projects like I2B2 or the Personal Genome Project busy in the near term. Informed consent will be somewhat tricky. For example, we know that James Watson is definitely qualified to make an informed decision about his personal genetic information and he recently declined to learn about his genetic predisposition to Alzheimer’s disease (a la ApoE). Obviously, many consumers at-large (and many practicing physicians too) have a poor understaning of genetics. We’re all new to the game for the most part.
Exactly how many people will volunteer? Hard to tell. The more the merrier. Perhaps this will be true not only for the gains that can be had toward human health, but also because with large numbers of participants any misappropriation or abuse of the information (by insurers or employers or corporations) would cause such a backlash that would-be wrongdoers may be deterred. Of course, the-more-the-merrier argument can go the other way too.
Its exciting to see projects like this starting to take form.
Gareth Cook "Harvard project to scan millions of medical files" Boston Globe. July 3, 2005.
Isaac S. Kohane, and Russ B. Altman. "Health-Information Altruists — A Potentially Critical Resource" NEJM 353:2074-2077, Nov 10 2005. (sorry subscribers only)