Are your genes your property?

In an earlier related post on biobanking, we asked our readers if they thought whether or not one's DNA should be private or publicly banked; the response was overwhelmingly in favor of privacy. Similarly, the notion of property rights in application to genes and genetic information presents serious challenges, as the Council for Responsible Genetics has long argued; their Genetic Bill of Rights includes a section that states "All people have the right to a world in which living organisms cannot be patented, including human beings, animals, plants, microorganisms and all their parts."

Now this issue is going before the courts: A group of patients, genetic researchers, and professional associations have filed a lawsuit against Myriad and the US Patent Office for patenting the genes known as BRCA1 and BRCA2. From the NY Times this morning:

"When Genae Girard received a diagnosis of breast cancer in 2006, she knew she would be facing medical challenges and high expenses. But she did not expect to run into patent problems.

Ms. Girard took a genetic test to see if her genes also put her at increased risk for ovarian cancer, which might require the removal of her ovaries. The test came back positive, so she wanted a second opinion from another test. But there can be no second opinion. A decision by the government more than 10 years ago allowed a single company, Myriad Genetics, to own the patent on two genes that are closely associated with increased risk for breast cancer and ovarian cancer, and on the testing that measures that risk.

On Tuesday, Ms. Girard, 39, who lives in the Austin, Tex., area, filed a lawsuit against Myriad and the Patent Office, challenging the decision to grant a patent on a gene to Myriad and companies like it. She was joined by four other cancer patients, by professional organizations of pathologists with more than 100,000 members and by several individual pathologists and genetic researchers.

The lawsuit, believed to be the first of its kind, was organized by the American Civil Liberties Union and filed in federal court in New York. It blends patent law, medical science, breast cancer activism and an unusual civil liberties argument in ways that could make it a landmark case. "

The complete article is accessible here; stay tuned as we follow this case, which could change the landscape in the field of genes and patents.

[Editor's note, added at 7:55pm, EDT: Colleague and WBP Supporter Art Caplan comments on this topic in his regular MSNBC column here, commenting that it is not always a bad thing when patent lawyers feel queasy. :>) ]

Bone Marrow Transplant Cured AIDS?

BBC News reports that a patient suffering from AIDS and leukemia shows no signs of AIDS infection after receiving a bone marrow transplant from an AIDS-resistant donor.

He had been infected with the human immunodeficiency virus, that causes Aids, for more than a decade and also had leukaemia.

The clinic said since the transplant was carried out 20 months ago, tests on the patient's bone marrow, blood and other organ tissues have all been clear.

In a statement, Professor Rodolf Tauber from the Charite clinic said: "This is an interesting case for research.

"But to promise to millions of people infected with HIV that there is hope of a cure would not be right."

Like many of you, I am skeptical about the long-term efficacy of this treatment and am concerned about the social justice challenges presented should this be determined to be a cure. But this story is valuable for the new direction it offers to medical research; while many researchers focus on preventing the virus from propagating, introducing genetics and possibly retroviruses opens up more possibilities. By pursuing all available angles of this crisis, we increase our chances of finding that elusive cure to this global epidemic.

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.

23 & Me...Cracking the Code

The issue of genetic screening and analysis--the value and expense of it--and whether the testing is necessary or worthwhile--has been raised and discussed on this blog site time and time again.

The decision to do so, as well as the necessity of it, is ultimately in the hands of those choosing to be tested, based upon their own personal situations. But to what degree--is the testing--and the expense--justified? And would you really want to know what manner of disease and possible genetic defects lurk in your gene pool, dormant for now, but awaiting that deadly trigger down the road, certain to release havoc in your body?

ABC Nightline with Martin Bashir, on Wednesday night, profiled a genetic testing firm, called 23andme that obviously believes that we all deserve and need to know the truth, at a time when there's still a chance to correct it.

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).