Biobanking Throwdown: 2nd Round

We had posted earlier about the ongoing debate on the ethics of DNA databasing -- here is round two in the debate. Our poll is still open, let us know where you stand!

BiobankingThrowdown: The Ethics of DNA Databasing

Do you agree or disagree with the following proposition? (take our poll and we'll compare it with the Economist's poll results) :

People's DNA sequences are their own business, and no one else's.

Art Caplan and Craig Venter go toe-to-toe on this issue, with Art Caplan defending the privacy of DNA and Craig Venter arguing for public access. An excerpt of the discourse:

Art Caplan: "There are, it is increasingly said, plenty of reasons why people you know and many you don't ought to have access to your DNA or data that are derived from it. Have you ever had sexual relations outside a single, monogamous relationship? Well then, any children who resulted from your hanky-panky might legitimately want access to your DNA to establish paternity or maternity" ...to read more, click here.

Craig Venter: "As we progress from the first human genome to sequence hundreds, then thousands and then millions of individual genomes, the value for medicine and humanity will only come from the availability and analysis of comprehensive, public databases containing all these genome sequences along with as complete as possible phenotype descriptions of the individuals"...to read more, click here.

Let us know what you think!

It's 10:00...do you know where your medical record is?

I've been meaning to blog this once since I saw it a couple of weeks ago: Perlegen Sciences, a spinoff of Affymetrix and a "recognized leader in genomics" (by their own lights) recently signed a deal with an electronic medical records (EMR) company for rights to the medical data of 4 million patients. According to the Perlegen press release, the data will be mined for "genetic markers that could help predict patient response to certain treatments." Patients who meet defined criteria will be sought--through their personal physicians, no less--to obtain samples of their DNA.

The EMR company isn't identified--a smart PR decision, I'm sure--but they will receive subscription and program fees, as well as "milestone payments" for new products that are developed as a result of the collaboration.

I hardly know where to start with this. First, patients' records are being provided, without consent, to a third party. Not for the common good, but for corporate profit. The EMR company will supposedly not share patients' identities with Perlegen--just their records--but it's unclear what happens down the road with genetic information (which is, as I have mentioned here before, not capable of being wholly de-identified). The fact that physicians are being recruited into this process as well--and that they will presumably get their cut--is problematic. The more old-fashioned among us still think that doctors have a fiduciary responsibility to patients that would preclude this kind of behavior.

All this money will likely come from pharmaceutical companies that are vying to produce tailored drugs. When the drugs hit the market, you can bet that the patients whose records were used will not be receiving a price break.

The final straw? The EMR company is not named, and won't be--so patients have absolutely no recourse or ability to opt out of this project.

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Edited to add this link to a story on Pharmacogenomics Reporter and another from Healthcare IT News. Apparently I'm not the only person who has a problem with this development: Patient Privacy Rights doesn't like it either.

More on BioBanking

According to BBC news, the UK may allow researchers to clone cells from human tissues donated for research purposes ... without the express consent of the donor.

Supporters assert that being able to clone cells from diseased tissue (eg, from tumor or other pathology samples) would allow researchers to learn more about those conditions -- and could speed the translation of basic-science research into clinically beneficial knowledge and treatments.

Opponents comment that sidestepping informed consent -- particularly for cloning, which creates copies of the donor's cells -- is a plain violation of research participants' rights to decide whether to participate in such studies. And, given the range of public opinion regarding cloning, it is conceivable that some research participants would oppose the use of their donations for this purpose.

This is another version of the question I've blogged about with regard to biobanking: just what should be the scope of allowed activities under a "blanket" or "one-time" consent? Also, should the research imperative (and perhaps the common good) outweigh individuals' preferences ion such cases?

Biobanking, part 3: returning research results to participants

So: you've agreed to participate in a genetic study for health purposes, and (with or without your consent--see post #2 on biobanking) the data you've provided has been made available to the broader research community. A sample of your DNA is stored in a biobank, and researchers who have been vetted by the biobank owners are allowed to use that DNA in future studies.

The consent form you were required to sign at the time you agreed to participate in the original study stated that you would not be contacted by the research team with information about the results of the research, or of any testing or other processes they might perform as part of their study. "Ok," you thought--having been informed that most genetic research being done today isn't informative at an individual level and wouldn't be clinically useful anyway--"fair enough. I don't need the researchers to contact me with information I can't act on anyway."

Fast forward 20 years. The promise of genetic research is beginning to deliver. As research uncovers more information about how genetics interacts with environment and behavior, the DNA sitting in biobanks around the world is telling more tales than it used to. The DNA that was formerly mere data is increasingly yielding meaningful information about the health risks of individuals. So, in our imaginary scenario, let's say that--20 years after you consented to participate in a breast cancer study--researchers working on a different project discover that you carry a genetic mutation that has been definitively linked to Serious Medical Problem X.

Here are some of the questions this (not terribly far-fetched) scenario brings up for me. Do the researchers have a professional and/or moral obligation to share this information with you? Does it matter that the original consent form, which was written for a single study that the researchers truly didn't expect to provide individually meaningful information, said they would not contact you? What if the researcher contacts you with information that you didn't want? Might the researchers' obligation to re-contact participants depend on whether or not there are good risk-reduction or treatment options for Serious Medical Problem X?

Here's some additional reading for those who want to read more on return of results from genetic studies: here's a paper from the Social Science Research Network; recommendations of a working group at the National Heart, Lung, and Blood Institute; a nice list of refs from Stanford's Center for Clinical Bioethics; and the issue of the American Journal of Bioethics that features a target article and open peer commentaries on this topic.

Wanna read the first 2 posts on this topic? Here they are: 1 2

Should genetic researchers be able to share your DNA?

As promised (or warned--I guess it depends on whether you think this is an interesting issue), here is another thing to think about with regard to genetic biobanking studies.

So: say you've agreed to participate in a research study that is trying to identify whether there is a genetic contribution to breast cancer. In this particular study, the researchers will follow a cohort of women who have not developed breast cancer at the time of enrollment. The researchers will take blood samples and do physical exams periodically. They will also sequence your DNA. As time goes on, some number of women in the study cohort will develop breast cancer, and some won't. The researchers will look at the DNA sequences to see whether there are different patterns in the genetics of the women who develop cancer as compared with those who don't. If they find such patterns, they'll go on to investigate what those specific mutations do.

This kind of research, which is called a genome-wide association study, GWAS for short--because it's looking for associations between genetic patterns and disease--is a lot like a fishing expedition. (You can learn more about these studies in this archived Science Friday audio panel with Ira Flatow.) How GWAS's work has a couple of important implications. One is that, for such studies to work at all, researchers need really big datasets to sift through. Another is that the same dataset could be used for lots of different purposes.

For these reasons, and for efficiency and cost-effectiveness reasons as well, the National Human Genome Research Institute (NHGRI) is trying to develop plans to pool or share such datasets across different projects.

Think back to our breast cancer study example. If you'd consented to participate in that study at your local research university, how would you feel about your (de-identified) information being used by researchers somewhere else? Would you feel that you needed to be offered the chance to opt out of this "wide data sharing?" Or would you feel that your original consent covered such subsequent uses?

Here's another permutation to think about. Say the researchers did the breast cancer study, and in the course of that work they noticed that there seemed to be a correlation between certain genetic patterns and alcoholism or schizophrenia. Would it be ok with you for them to pursue this line of inquiry using your genetic information? Would you feel that you needed to be offered the chance to opt out?

You can read about the NHGRI policy, and the scientific community's reaction, in The Scientist, here. Salon.com ran an article a few years ago about a much smaller open-source approach to genetics, here (which is where the nifty kitty photo came from).

Biobanking and you

Imagine this scenario: you're a healthy person, no major complaints. You go for your annual physical exam, and you have a couple of blood tests--standard stuff, checking to make sure your cholesterol's ok, you're not anemic, etc. A couple of weeks go by, you get a card in the mail that says everything's fine. End of story, right?

Maybe not.

Now imagine that the hospital or clinic has retained the blood left over from the tests your dcotor ordered. And further imagine that the hospital or clinic has what's called a biobank or biorepository--that is, a collection of stored tissue for use in research. Your DNA is extracted from the blood sample and sequenced--which means that some piece of your genotype is now known to some researcher (but not to you). In some institutions, this couldn't happen without your explicit (written) informed consent; but in others, it's standard practice that "waste tissue" from blood tests, pathology samples, etc. becomes the property of the hospital or clinic. Should informed consent be required, or is an opt-out model more appropriate?

Generally speaking, biobank participants' DNA samples aren't associated with their name, Social Security Number, street address, or other information traditionally considered "identifying"--but the reality is, nothing is a more precise identifier of who you are than your so-called genetic fingerprint. Is this worrisome?

I'd be interested to hear what others think about this--and, fair warning, I am likely to be asking more questions along these lines, as the DNA biobanking issue is on my mind a lot these days!

While I'm at it, here are two references for further reading, if you are so inclined. The Stored Tissue Issue, from Robert Weir, Robert Olick, and Jeffrey Murray, is an academic treatment of the issues. Michael Crichton's Next is an entertaining look at some of these questions--and it just happens to be a WBP Book Club selection.