The first generation of Direct-to-Consumer genetic testing and sequencing was populated by companies such as 23andMe, Navigenics and deCODEme that offered genotyping for a limited set of conditions, focusing primarily on genealogy and monogenic traits.
As the cost of generating genetic data continued to decline new companies brought new commercial offerings to the table, including whole-genome sequencing from Knome and, more recently, Illumina, and an increasing focus on the genetics underlying complex diseases and traits.
Recruiting Customers as Research Subjects
Even more recently a new dimension to the field of DTC genetics has emerged: Direct-to-Consumer research. In May of 2008 23andMe’s founders laid out their vision for customer-driven research. 23andWe, as the company’s research arm is known, launched its first significant project in March of this year when, aided by financial support from Sergey Brin, the co-founder of Google and the husband of 23andMe co-founder Anne Wojcicki, 23andMe announced a large-scale study aimed at the genetic bases of Parkinson’s disease. The study aims to recruit 10,000 patients with Parkinson’s disease to enroll. Participants in the study will receive 23andMe’s services for $25, a steep discount from the going rate of $399.
And on Tuesday, 23andMe announced what it is terming the “Research Revolution, a community outreach program that empowers people to drive the direction of genetic research.” In some ways this Research Revolution is genomic research meets American Idol, with the general public invited to vote by participating in the project and choosing from a list of 10 diseases to support. (Participation costs $99 for a stripped-down version of 23andMe’s service that does not include several key features, including ancestry information, carrier testing and access to the underlying raw genetic data).
In return, 23andMe pledges to do research on any disease that enrolls enough patients to ensure a productive study. 23andMe scientists will collaborate with outside researchers who have expertise in the particular topics being studied.
Not to be outdone, several weeks ago TruGenetics entered the DTC genomics space for the low, low price of $0. The catch? Signing up to receive the free genome scan requires participation in the TruGenetics research database. From the TruGenetics Terms and Conditions:
Your questionnaire responses and genetic information will be used for genetic research. One of the main goals of TruGeneticsTM is to develop a unique research database for conducting genetic studies. Your decision to use TruGenetics’TM services indicates that you are willing to contribute your questionnaire responses and genetic information to the TruGeneticsTM research database. This research database will be free of any information that can be used to trace this data to you. All of the data in the research database will be anonymized and analyzed in aggregate (as a group) so that no single individual can be identified through the research database. TruGeneticsTM may conduct this research, or may partner with another organization, including non-profit and commercial entities, to conduct research. TruGeneticsTM may charge a fee for conducting research using this database. This research may lead to publications that reveal the findings. These publications will not contain any information that can be used to identify you.
You will not benefit directly from contributing your information to the research database. However, important discoveries might be made through this research, and this might significantly help other people. If these discoveries are validated and accepted by the scientific community, we will provide you with this information as it pertains to your genes. This research may also lead to the development of a commercial product. You will not receive any payments if this occurs.
Existing Regulation of Human Subjects Research
Is soliciting consumers in an attempt to build an attractive or novel research database a viable business model for these companies? Daniel MacArthur at Genetic Future has tackled this question several times (see here, here, here and here) and thinks that it just may be. Viable or not, however, this emerging model — in which research and commercial activities are hybridized to the point where it may be difficult at times to distinguish profit-seeking from knowledge-seeking activities — is almost certain to attract to the attention of legislators and regulators if it persists.
Human genomic research regulation, as with all human subjects research, is informed by the societal response to the universally condemned research atrocities of the early 20th century. From Nazi Germany to the Tuskegee syphilis study, abuses of human research subjects led to the Nuremberg Code, the Declaration of Helsinki and ultimately the publication of the Belmont Report in 1978, which continues to serve today as the foundation for modern human subject research protections in the United States. In 1991, more than a dozen Federal departments and agencies joined with the Department of Health and Human Services in adopting a uniform set of regulations known colloquially as the “Common Rule.”
Among many other functions, the Common Rule — as implemented and enforced by the Office for Human Research Protections (OHRP) — sets out guidelines for the review of human research projects by Institutional Review Boards (IRBs), including guidelines for determining which individuals should serve on IRBs, what types of research should (and should not) be approved for public participation and how to achieve informed consent from research participants prior to enrollment.
The activities of at least partially publicly funded genomic research projects such as the Personal Genome Project (PGP) or the Coriell Personalized Medicine Collaborative (CPMC) — which invite members of the general public to enroll in large-scale research studies that address many of the same questions as those posed by 23andWe and TruGenetics — are covered by the Common Rule, commercial genomic research projects such as those outlined by 23andMe and TruGenetics are not similarly covered. (Research conducted by pharmaceutical, medical device and other companies subject to FDA regulation is subject to FDA human subject protection regulations that closely track the Common Rule).
Collaborative Research: 23andMe may enter into partnerships with other investigators and organizations — non-profit and/or commercial — that conduct scientific research. Prior to embarking on any such projects, 23andMe will establish a research advisory committee to guide such collaborations. 23andMe may grant researchers associated with partner organizations access to aggregated data from our database of genetic and other contributed personal information for specific research queries. 23andMe will only provide individual level data to external researchers upon individual consent from each customer. In addition, we will ensure that such research partners obtain clearance from institutional review boards, as appropriate, and agree to maintain confidentiality consistent with our privacy statement. Once information is shared with research partners, we cannot guarantee that it will be destroyed upon request.
The Terms and Conditions provided by TruGenetics serve a similar role, although they are not (as of this writing) as specific as those provided by 23andMe.
But as self-regulating entities, commercial DTC companies do not conduct their research with the same degree of transparency required of academic or governmental genomic research. The composition of a “research advisory committee” or the specific nature of “partner organizations” (or other providers of research funding) is not necessarily public information, as would be required of more traditional research projects.
On the other hand, as businesses that routinely deal directly with consumers, research conducted by DTC companies may prove to have several distinct advantages over traditional research models, including a greater ability and desire to return research results to participants. As Genetic Future puts it:
In order for academic consortia to pursue the 23andMe model, they need to be in a position to return comprehensive results from genome scans to their patients and controls. However, providing such complex information to a lay audience is extremely difficult, and probably beyond the means of most academic groups. That means (as I noted back in March) there’s a potentially massive possible market for 23andMe here in providing a mediation service for returning research data to patients, and for providing the resources required to keep participants engaged actively in the research community.
But regardless of whether companies like 23andMe end up being physically involved in this mediation process, I’d suggest that academics need to take heed of the model the company is pursuing. It’s likely that over the next few years the current model for returning research data to participants — i.e. don’t — will become increasingly unpopular with potential research subjects, and indeed I’d argue that this model has always bordered on the unethical. Finding realistic ways of presenting large-scale genetic data to research participants is something that academic researchers will need to sort out soon, one way or another — and those that do it well, I suspect, will find it much easier to recruit and maintain their research cohorts.
Although regulated research projects like the PGP and CPMC have already begun to buck the trend by returning research results directly to participants (and in the case of the PGP, placing those results in the public domain as well), it seems likely that consumer-focused companies such as 23andMe will continue to be more adept at mediating the transfer of information between researchers and participants than the researchers themselves. There are indeed good reasons to believe that DTC genomic research may be a key contributor to a “research revolution.”
The Future (Regulation) of DTC Genomic Research?
So what does all of this mean for the future of DTC genomic research? Although the past twelve to eighteen months have seen legislators and regulators alike begin to turn their attention to the commerce of genetic testing and genomic sequencing, those discussions have typically focused on whether and how to regulate the provision of commercial services. Comparatively little attention, if any, has been paid to the research efforts of DTC companies.
It’s certainly possible that companies like TruGenetics and 23andMe can build large customer-supplied research databases and contribute meaningful scientific research to the public at large while simultaneously policing themselves to ensure that, for example, participants provide adequate informed consent, research results are not compromised by conflicts of interest and research programs and models are vetted for scientific and ethical appropriateness and merit.
But one thing is certain: if this new model of DTC genomic research persists and succeeds, it will draw considerably more attention from legislators and regulators in the not-too-distant future.