Is There an Obligation to Return Genetic Data to Research Participants? Kaiser Responds to 23andMe’s TEDMED Criticism
Earlier today, in the latest installment of the What ELSI is New? series, Daniel MacArthur asked a question that has cropped up repeatedly in recent weeks and months as part of the broader discourse surrounding genetic research and commerce: what rights should individuals have to gain access to their personal genetic or genomic data?
MacArthur’s position – that research participants should generally be provided with complete access to their own genetic data upon request – is one that continues to remain a minority position. It finds support in research initiatives such as the Personal Genome Project (PGP) and (to a lesser extent) the Coriell Personalized Medicine Collaborative (CPMC), but returning research results has generally been eschewed by other large-scale genetic research projects, including Kaiser Permanente’s recently announced Research Program on Genes, Environment, & Health (RPGEH).
Last month, the Genomics Law Report examined the RPGEH and its reluctance to return genetic data to a participant population that is expected to quickly grow to 100,000 or more Kaiser patients. RPGEH’s decision not to return data to its participants was under the microscope again last week at TEDMED 2009 when 23andMe co-founder Anne Wojcicki criticized Kaiser for planning to genotype RPGEH participants without offering them the ability to review their data.
Today, on Pioneering Ideas (the blog of the Robert Wood Johnson Foundation’s Pioneer Portfolio) Cathy Schaefer, executive director of the RPGEH, responded to Wojcicki’s criticism. An excerpt of Schaefer’s response:
We inform all participants about the purpose of collecting genetic and other information, and they volunteer to participate — at no cost to them — to facilitate this research, knowing their individual results will not be returned to them and that all data about them will be “de-identified.” We also inform participants that if we discover something in their data or samples that may be important to their health, we will contact them to learn if they want to have the information.
Why doesn’t the RPGEH restructure so that it can return results to individuals? Because genetic information obtained through today’s genome-wide studies has not been designed to be useful to individuals; it is designed for use in research. In most cases, it isn’t known whether the variants tested for are actually implicated in a disease process, or are markers for variants that play a role in disease, and results from these tests are rarely actionable.
In responding to 23andMe, Schaefer offers up one of the most common criticisms of DTC genomics companies: that the genome-wide association studies which form the backbone of the personalized genetic analysis offered by companies such as 23andMe have “. . . not been designed to be useful to individuals.” The argument that the services provided by DTC genomics companies are not “useful to individuals” isn’t new, and neither is Schaefer’s explanation for why such services are not useful: because the “results from these tests are rarely actionable.”
Acknowledging that the genotyping conducted by the RPGEH or by 23andMe does occasionally produce actionable results, the RPGEH has indicated that participants will be contacted in the event that genotyping discloses information that “may be important to their health.” However, as I discussed in my initial review of Kaiser’s study, the threshold for determining “importance” does not appear to be as clearly defined in the RPGEH as in, for example, the CPMC study.
Moreover, determining whether to provide individuals with access to their genetic data, whether in the research or consumer context, solely on the basis of whether that data is likely to be medically actionable requires a particularly narrow interpretation of “utility.” As MacArthur concludes in today’s ELSI commentary:
In addition to the ethical imperative to return medically actionable data to participants, open return policies may well prove to have non-trivial practical benefits: the promise of receiving some tangible benefit from participation is likely to improve recruitment and retention rates.
There are many other potential benefits associated with the broad dissemination of genetic data to both researchers and participants, including the possibility of “personal utility,” which is no doubt one of the factors that has prompted NIH to revisit its genomic data-sharing policy.
At least for the moment, the likelihood that Kaiser will overhaul the RPGEH to provide for the return of genetic data to its participants is roughly equivalent to the likelihood that 23andMe will simply cease utilizing GWAS results as part of its DTC service. In other words, it’s simply not going to happen. But credit Wojcicki, Schaefer, MacArthur and others for continuing to push the conversation forward in an attempt to strike the ideal balance between the oft-competing agendas of participants, medical practitioners and researchers when it comes to the management of individuals’ genomic data.
Want to read more? These recent ELSI commentaries address the issue of when and how individuals should have access to their genetic information:
- Privacy & Ownership of an Individual’s Personal Genetic Information. Jennifer Sweeney, Knome, Inc.
- To Share or Not to Share: That is the Question. Catherine A. McCarty, Marshfield Clinic Research Foundation.
- Medical vs. “Recreational” Genomics: Drawing a Line in the Sand. Allie Janson, University Health Network/Mount Sinai Hospital’s Fred A. Litwin Family Centre in Genetic Medicine and DNA Exchange.
- It’s my genome: should researchers be obliged to return genetic data to research participants? Daniel MacArthur, Wellcome Trust Sanger Institute and Genetic Future.
Comments
4 Responses to “Is There an Obligation to Return Genetic Data to Research Participants? Kaiser Responds to 23andMe’s TEDMED Criticism”Trackbacks
Check out what others are saying about this post...-
[...] been designed to be useful to individuals; it is designed for use in research” (also noted by Genomics Law Report and Genetic [...]
Why doesn’t the RPGEH restructure so that it can return results to individuals? Because genetic information obtained through today’s genome-wide studies has not been designed to be useful to individuals; it is designed for use in research. In most cases, it isn’t known whether the variants tested for are actually implicated in a disease process, or are markers for variants that play a role in disease, and results from these tests are rarely actionable.
I agree that consumers should obtain personal genetic data even if they are not clinically useful. My concern is with the accuracy of the data. If a private company tells me, based upon current information, that my risk for type 2 diabetes is 10% but when additional variants that influence risk become known, and it turns out that my risk is actually 30% or 1%, how valid is the 10% value I get today? If future variants would only fine tune current risk estimates, placing some confidence in my 10% risk is justified, but if future data change my risk dramatically I would content that the 10% is a bogus value and providing it in any context is misleading.
Unless access is contracted for, as in DTC genetic services, genetic data should be treated like other human biological research data — patient access to such data generally should not be required.
Currently, patient consent documents generally don’t require researchers to return research results obtained by study of the patient’s blood, tissue, DNA or other biological samples. There are practical reasons for this. Research subjects can be difficult and expensive to track down (they die, move, change name). Moreover, even if you could track down a particular research subject, you’d not only need to provide them with the research data, but explain what the data means. Note that many studies use samples obtained as a result of routine medical procedures (e.g., cancer biopsy) or other purposes unrelated to the research, and the subject may not even be aware that the sample was used for the research.
In general, returning research data to subjects would require a complete rethinking of biological research on human subjects. That may be a good thing in the long run, but such a rethinking needs to take into account all of the ramifications, including increased expense, more difficult recruitment, the need for persons trained in patient education and counselling, subject tracking, etc.
Mohan and Alan,
Your responses both seem to support the status quo and I´d like to give you some quick answers from my perspective. (BTW, I rambled on this article and comments since I´m a KP patient that just got a letter asking me to be a participant in the RPGEH study. After reading the letter I thought about it a bit and said to myself, well, if this means I can access any results in the future, then I´d be further motivated to consider this request).
After thinking about it I agree with MacArthur’s position, i.e. that research participants should generally be provided with complete access to their own genetic data upon request. With “Upon request” being the key word. So, here are my responses to the above comments:
Mohan, if the data that I could be provided with is so un-actionable (at least at this present time), then it is pretty much harmless to provide it, right? but more importantly, the fact that the data is in a difficult form for useful consumption right now doesn´t mean that it won´t be useful in the future. As a participant I just want the peace of mind to be able to easily provide this info to some doctor who may be able to use it in case I have a hard to diagnose condition of some sorts. Other use cases can be thought of.
Alan, you explain well the difficulty of having to return research results to participants, but you seem to approach it from the perspective of having to return the results to all participants. A monumental task for a project that may take a long time. I don´t think that is what is being debated, I simply want to be able to request the information myself if I choose to and to know how to proceed with that. I think this would increase participation at very little expense. There could even be some modest fee to prevent frivolous requests and fund the request mechanism.
Anyway, on grounds of principle I will not participate in the RPGEH study.
Thanks for your time and feedback.
PS. On a lighter note, could it be that people who think like myself, i.e. take the time to think about their participation on the grounds being discussed here, are putting some bias into the study? Could it be that this group I belong to carries some common genes, that makes us think/behave like this, that are possibly correlated with self preservation ability and longevity? and this group is now absent from the study… Depending on your viewpoint the genes in question are the “self preservation and thoughtfulness” genes or the “annoying conspiratorial troublemaker” gene, and could affect longevity either positively or negatively… take this P.S. with tongue in cheek and a big grain of salt….