Is There an Obligation to Return Genetic Data to Research Participants? Kaiser Responds to 23andMe’s TEDMED Criticism

kaiser-23andMe-tedmed-imageEarlier 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: