The PBS television station KQED in San Francisco recently aired a very thoughtful segment comparing online genomic counseling through DNA Direct to traditional face-to-face counseling via UCSF. Check it out:
KQED, Genetic Testing through the Web. Feb 20, 2007.
Full discolure: I am employed by DNA Direct.
Harbinger! I-species is a mash-up of a variety of information sources…
Check it out! See also the I-Species Blog
Hat tip Open Access News with this post…snip: “Once scientists see the value of freeing-up data, mashups will explode…”
Want more mash-ups? Look no further…
What consequence human health?
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)
PHI liquidity is a good term, in the conference description it is defined as:
"the ability of that information to move around, relatively friction-free, to where it is most useful and relevant"
A really exciting topic. Much of medical progress depends on our ability to aggregate and plumb health information. The possibilities that are available when this information is all hooked together becomes really interesting…and not just for scientists, epidemiologists, drug-makers, physicians, (oh yeah and insurers), but also for regular information consumers.
We’ve got access to general population level statistics now, much of it is irrelevant, outdated, or just impossible to use. Information is always more interesting when it is about you. This remains true at a population level too. Imagine being able to view real-time, population-level health information filtered by your personal health record, including such things as age, pharamaceutical regimen, location, genotype, medical history, family history, weight, diet, etc.
Jeff Berman, Micohealth Remotely Connects Patients and Providers, Health-IT World.
Micohealth, a Web-based application from Medmanager Interactive, is helping patients with diabetes and heart problems manage their conditions and keep clinicians better informed.
Micohealth provides a way for patients to collect vital information, monitor symptoms, and communicate with clinicians. By tracking daily activity, including exercise, and food and medication intake, patients and clinicians are better equipped to assess how effectively the disease is being managed.
UPDATE: The California Healthcare Foundation website recently added the following guide by The First Consulting Group: "Online Patient-Provider Communication Tools: An Overview" (pdf warning!), November 2003. (Thanks to The Informatics-Review)
Mike Dougherty, LEADING QUESTIONS: Looking Down the Road, Health Leaders Magazine, Nov. 2003.
This article is an interview with Molly Joel Coye MD MPH, the founder and CEO of HealthTech. Her comments contain no surprises and are a welcome reaffirmation of the excitement surrounding the health IT field. First, her opinion about future trends in health technology:
"…increasing consumer demand will meet a truly exploding pipeline of clinical devices-both implanted and worn-that will be used to replace natural functions to support, function or aid in treatment as chronic disease takes its toll."
On the future of electronic patient record (EPR):
"The electronic patient record is one of the three or four components important in the next three to five years in IT. The first stage is development of regional platforms for data sharing. Regional platforms often begin with eligibility lookup, claims lookup and eventually claims processing, and progresses to clinical data sharing beginning with laboratory and pharmacy and working out from there. There’s a growing national awareness of the urgency of the need for better information in healthcare. If, in the next two years, most of the necessary clinical data standards are established, we will be entering a new era as vendors sell IT systems that are compatible with the standards. The use of the EMR should grow steadily over the next five to eight years, and ultimately will be the most important piece of the puzzle of advancing quality."
Lets imagine that in ten years from now there is a genome sequencer in every medical doctor’s office. The price of whole-genome sequencing has plummeted to $500 with the development of new technology. Since $500 is in the range of other, often less effective diagnostic tests, it is the policy of your insurance company to shell out for this simple procedure. As part of your regular physical exam, your doctor not only listens to your heart & lungs, takes your blood pressure, maybe draws some blood, but also takes a swab from the inside of your cheek and sequences your genome from those cells. In an hour or so, all three billion nucleotides of your genome are automatically attached to your electronic medical record (EMR), which is standard fare for doctors in the future (not enough shelf space to do otherwise: your genome alone would fill approx. 200 volumes at 1000 pages each). In addition to your genome, your EMR contains your complete medical history: every cavity, every medication ever prescribed, every stitch.
A repository (i.e. a database) located somewhere, perhaps at the office of the company which developed the EMR application or the office of a company specializing in genetic data storage (or possibly as part of a nation-wide, centralized project), houses your EMR along with the EMRs of millions of other people.
The information contained in your EMR may contain information that
you would not want your boss or health insurance company to know, it is
conceivable that you may not want to know some of the information
yourself, especially since genetic sequence data can be predictive
(then again maybe an advanced diagnosis will allow for better disease
What kind of legal protections do you and your EMR have? Who can
legally look at this information and what actions can they legally take
from such knowledge? Can you get fired (or not hired)? Or dropped by
your insurance company (or not accepted to begin with)? Can a medical
researcher use the information in your EMR to aid in the discovery of
disease etiology (which may help you or others in the future)?
Maybe you live in Germany
and during a mandated medical exam to become a teacher, your doctor
identifies you as a candidate for a debilitating degenerative disease.
As a consequence of this information, your employer does not hire you
for future fear of having a less productive and more expensive employee
due to illness.
Or maybe you are an epidemiologist trying to unravel a complicated
disease that strikes a small population with criminal severity. Some
evidence suggests the disease is a genetic disorder. Other evidence
suggests the disease appears in some individuals after taking a widely
prescribed drug. Luckily, the indications of the disease are well
characterized. With the information contained in millions of EMRs, it
is hoped the cause of the disease can finally be discerned.
Or maybe you are a policymaker
today trying to determine what level of protection to afford persons
divulging medical information. What kind of recommendation does one
make? Personal medical records create possibilities of damaging
livelihoods if mishandled by either allowing access to those likely to
abuse it or not allowing access to those which desire to make good use