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
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:

  1. "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…"
  2. "researchers who curate genetic databases should have some protection for their activities, provided that they follow an agreed-on set of operating guidelines…"
  3. "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.

I2B2 Homepage

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)

Boy Identifies Formerly Anonymous Sperm Donor Father

A 15-year old boy conceived through anonymous sperm donation has tracked down his biological father using several morsels of information supplied by his mother, information about his own Y chromosome supplied by a dna test he ordered online, and a geneological database. The details are supplied by New Scientist:

The boy paid FamilyTreeDNA.com $289 for the service. His genetic father had never supplied his DNA to the site, but all that was needed was for someone in the same paternal line to be on file. After nine months of waiting and having agreed to have his contact details available to other clients, the boy was contacted by two men with Y chromosomes closely matching his own. The two did not know each other, but the similarity between their Y chromosomes suggested there was a 50 per cent chance that all three had the same father, grandfather or great-grandfather.

Importantly, the men both had the same last name, albeit with different spellings. This was the vital clue the boy needed to start his search in earnest. Though his donor had been anonymous, his mother had been told the man’s date and place of birth and his college degree. Using another online service, Omnitrace.com, he purchased the names of everyone that had been born in the same place on the same day. Only one man had the surname he was looking for, and within 10 days he had made contact.

The privacy implications for other anonymous sperm donors is significant. Equally astonishing is the implication of this 15 year old boy: young persons of the Net-Generation, so called N-geners, are superpower users of technology. The ability of this kid to piece together a mishmash of technologies and services on the web for his purposes is truly remarkable.

Growing_up_digitalDon Tapscott. Growing Up Digital: The Rise of the Net Generation. New York: McGraw-Hill, 1998.
Genetic_secretsMark Rothstein. Genetic Secrets : Protecting Privacy and Confidentiality in the Genetic Era. Yale UP 1999.

Harriet Pearson Interview about Genetic Privacy

Harriet Pearson, Chief Privacy Officer at IBM discusses genetics and privacy in an interview with Scott Berinato of CSO.  Listen to the podcast.

IBMs Pledges to Protect Genetic Privacy of Workforce

Developing story from the New York Times:

I.B.M., the world’s largest technology company by revenue, is promising not to use genetic information in hiring or in determining eligibility for its health care or benefits plans. Genetics policy specialists and privacy rights groups say that the I.B.M. pledge to its more than 300,000 employees worldwide appears to be the first such move by a major corporation.

Steve Lohr. "I.B.M. to Put Genetic Data of Workers Off Limits" October 10, 2005

Update: Over at IBMs excellent collaborative blog on the future of healthcare, HealthNex, IBM’s Chief Privacy Officer Harriet Pearson introduces the genetic privacy policy and says "I hope the fortuitous coincidence of these public events [Eddy Curry case, IBM's policy, etc] — and many
more that will certainly arise in the weeks, months and years ahead –
will promote the kind of discussion around the future importance of
genetic security and privacy that our policy initiative today was
intended to generate."

Update2:  Amy Barrett. "IBM’s Smart Stance on Genetic Testing" OCTOBER 11, 2005

Event: Future of PHI Liquidity

How do we improve personal health information liquidity?  An upcoming event hosted by Esther Dyson will explore this and related topics.

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. 

How do ensure privacy is maintained?  How do ensure people have an incentive to share their information (other than not giving them a choice)?

Genetic Screening and Life Insurance

Quest Diagnostics recently acquired LabOne, which puts them in the position to get involved in genetic screening of life insurance applicants.  A recent quote from the CFO of Quest (via Medscape):

"Gene-based testing allows you to do predisposition testing, and I don’t know that there’s a lot of that done today on the life insurance side, but certainly that’s an opportunity as we go forward because it gives you a better profile of the individual’s risk," said company Chief Financial Officer Robert Hagemann.

What does this mean for life insurance and those seeking it?  I don’t have the answers to this question at the moment, but the best source of information that I’m aware of on this subject is a recent book edited by Mark Rothstein (who also edited a collection of papers on genetics and privacy).

Mark Rothstein (editor). Genetics and Life Insurance : Medical Underwriting and Social Policy. MIT Press, 2004.

Resource: Economics of Privacy

Behind a privacy intrusion there is often an economic trade-off. The reduction of the cost of storing and manipulating information has led organizations to capture increasing amounts of data about individual behavior. The hunger for customization and usability has led individuals to reveal more about themselves to other parties. New trade-offs have emerged in which privacy, economics, and technology are inextricably linked: individuals want to avoid the misuse of the information they pass along to others, but they also want to share enough information to achieve satisfactory interactions; organizations want to know more about the parties with which they interact, but they do not want to alienate them with policies deemed as intrusive.

Is there a combination of economic incentives and technological solutions to privacy issues that is acceptable for the individual and beneficial to society? Is there a sweet spot that satisfies the interests of all parties?

This from a resourceful website at Carnegie Mellon that tracks info related to the economics of privacy–a thought-provoking topic for personalized medicine, which will be driven by the collection and mining of huge stores of population-wide, detailed personal health information (see LifeGene).  Afford medical consumers a small number of protections and they will resist making their information available.  At the same time, the more restrictions created around the free transmission of personal health information, the more difficult and costly the task of generating useful knowledge.  As population studies become larger and larger, and they surely will, these issues will be of paramount importance. 

Thank you to Alessandro Acquisti for maintaining this resource.  I’ve added a link in the "law, policy, and ethics" section on the right, where the rest of the privacy related links reside.

Saffo on DNA Privacy

The Institute for the Future’s Paul Saffo has written an op-ed in the Washington Post addressing biometric technology and its discontents.  He also takes a quick look at some of the future problems surrounding DNA and privacy:

"…DNA is the gold standard of biometrics, but even DNA starts to look
like fool’s gold under close inspection. With a bit of discipline, one
can keep a card safe or a PIN secret, but if your DNA becomes your
identity, you are sharing your secret with the world every time you
sneeze or touch something. The novelist Scott Turow has already written
a hapless sap framed for a murder by an angry spouse who spreads
his DNA at the scene of a killing.

The potential for DNA identity theft is enough to make us all wear a
gauze mask and keep our hands in our pockets. DNA can of course be
easily copied — after all, its architecture is designed for
duplication — but that is the least of its problems. Unlike a credit
card number, DNA can’t be retired and swapped for a new sequence if it
falls into the hands of crooks or snoops. Once your DNA identity is
stolen, you live with the consequences forever.

This hasn’t stopped innovators from using DNA as an indicator of
authenticity. The artist Thomas Kinkade signs his most valuable
paintings with an ink containing a bit of his DNA. (He calls it a
"forgery-proof DNA Matrix signature.") We don’t know how much of Tom is
really in his paintings, but perhaps it’s enough for forgers to
duplicate the ink, as well as the distinctive brush strokes.

The biggest problem with DNA is that it says so much more about us
than an arbitrary serial number does. Give up your Social Security
number and a stranger can inspect your credit rating. But surrender
your DNA and a snoop can discover your innermost genetic secrets –
your ancestry, genetic defects and predispositions to certain diseases.
Of course we will have strong genetic privacy laws, but those laws will
allow consumers to "voluntarily" surrender their information in the
course of applying for work or pleading for health care. A genetic
marketplace not unlike today’s consumer information business will
emerge, swarming with health insurers attempting to prune out risky
individuals, drug companies seeking customers and employers managing
potential worker injury liability.

Faced with this prospect, any sensible privacy maven would conclude
that DNA is too dangerous to collect, much less use for a task as
unimportant as turning on a laptop or working a cash machine. But
society will not be able to resist its use. The pharmaceutical industry
will need our DNA to concoct customized wonder drugs that will fix
everything from high cholesterol to halitosis. And crime fighters will
make giving DNA information part of our civic duty and national
security. Once they start collecting, the temptation to use it for
other purposes will be too great…"

Paul Saffo, "A Trail of DNA and Data" Washington Post, April 3, 2005.

Check out the IFTF’s blog Future Now.

S. 306 Passes

The Senate voted 98-0 yesterday to pass the Genetic Information Non-Discrimination Act of 2005 (S. 306).  This bill now goes to the House.  The Senate passed a similar act in 2003, but it never made it through the House.  The passage of this bill, will undoubtedly re-ignite the debate on the realities of genetic discrimination.

See the AP release or read the bill at Thomas.

Francis Collins
The American Society of Human Genetics

Venter on his genome

Q: I’ve got
one cheeky question for you — what’s it like knowing your own genome
sequence? Is it something that you think about or go and check to see
if you’ve got one of the diseases that have been showing up in the

Venter: I don’t think that’s
so cheeky. I think people have so many confused views and fears over
genomics — it’s not what people anticipate that it is. Understanding
probability of statistics of what it means to have a 15 percent
increased risk of cardiovascular disease based on certain factors —
there are very few yes/no answers in the genetic code. You don’t look
at it and go, "Aha! Now that explains this quirky bit of my
personality" — that’s just not how it works. But I think that’s the lay
view, including among many scientists, of what it is. Even when I poll
medical school classes, roughly half of each medical school class
doesn’t want to know their own genetic code, they’re afraid to know,
it’s going to give them some defined principle of their lives they
don’t want to know about. And so I think we’re reading way, way too
much into what it gives you. To me, it’s a scientific curiosity, it’s a
point of analysis. I’m happy to have it on the Internet, because it
doesn’t provide what everyone, in their deep dark fears, fear that it
would provide. Or if it does, there is nobody out there yet that’s
smart enough to read it.

Q: So it’s not an invasion of your privacy?

Maybe someone will make a discovery and I’ll go, "Oh shit, I shouldn’t
have put it out there after all!" I can’t imagine what someone would
find reading my genetic code that they couldn’t already find on the
Internet anyway.

From this interview of Craig Venter by Melissa Trudinger at Bio-IT World

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