Voting with their Mice: Personal Genome Testing and the “Participatory Turn” in Disease Research

Abstract

While the availability of genome tests on the internet has given rise to heated debates about the likely impact on personal genome information on test-takers, on insurance, and on healthcare systems, in this article I argue that a more tangible effect of personal genomics is that it has started to change how participation in disease research is conceived and enacted. I examine three models of research participation that personal genomics customers are encouraged to engage in. I conclude with an evaluation of the pitfalls and benefits of “crowdsourcing” genetic disease research in the context of personal genomics.

Keywords:

• disease research
• Internet
• personal genomics

ACKNOWLEDGMENTS

I am grateful to Mathieu Albert, Jeantine Lunshof, Gísli Pálsson, David Gurwitz, and the anonymous reviewers for Accountability in Research, for very helpful comments on this manuscript.

Notes

1. DeCODE, the provider of the deCODEme PG service, declared bankruptcy in November 2009. It maintained operations at the time of writing (December 2010).

2. In response to recent efforts on the side of the U.S. Food and Drug Administration (FDA) to regulate the PG market, Pathway Genomics stopped offering their tests DTC in July 2010, until all issues with the FDA are resolved. Their customers must now order the test kit through their doctor. Also deCODEme has offered their PG-tests through doctors in parallel to maintaining their DTC-branch since spring 2010. Counsyl (www.counsyl.com), which focuses on carrier testing, and DNAdirect (www.dnadirect.com) are two examples of companies which had offered their services DTC initially and have now moved over to encouraging individuals to order through their physician. The marketing of their tests continues to target potential consumers directly (e.g., see https://www.counsyl.com/order/). 23andMe continues to sell their tests only DTC.

3. This is how 23andMe';s Web site, titled The 23andMe Research Revolution, communicates this objective to potential participants: “Genetic data is only half of the puzzle. Participants pledge to take online surveys designed to uncover correlations at the genetic level. The surveys are easy, informative and invaluable to research” (23andMe, 2009a).

4. This section draws upon the main sources: (1) an analysis of texts and documents (including PG service Web sites, news items, online discussion groups, consumer, and genomics science blogs) obtained from daily internet searches with the key words “personal genomics,” “GWAS,” “23andMe,” “deCODEme,” and “Navigenics,” from 30 October 2007 to November 2009 (via the Google Alerts tool: http://www.google.com/alerts); (2) an analysis of the representation of PG companies in the scholarly literature and in conference presentations on PG from November 2007 to December 2010; and (3) communication with members of user groups of PG companies (July 2009 to December 2009).

5. Just to name one important difference in another respect, Napster is organized around file sharing primarily, while in the case of 23andMe, sharing is encouraged and endorsed in a much broader sense: sharing of research efforts (and benefits), sharing of the genome information itself (see also the Genomes Unzipped initiative [http://www.genomesunzipped.org/] as another manifestation of this notion), sharing of thoughts and findings on chat sites, etc.

6. Yates (2010) argues that 23andMe actively “promotes” the violation of a clause of their own terms of service, namely, that test results may not be used “to diagnose, cure, treat, mitigate, or prevent a disease or other impairment or condition or to ascertain your health” (http://www.23andme.com/about/tos/?version=1.1), by encouraging customers—e.g., via Twitter (www.twitter.com)—to show their test results to their treating physicians in order to “enlighten” them.

7. At the same time, however, can attracting customers who are solely interested in genetic ancestry information to taking PG tests bring them closer to thinking about health implications as well when they share profiles with genetic relatives who are predisposed to certain conditions or phenotypes. I thank Jeantine Lunshof for alerting me to this aspect.

8. Under the headline “23andMe Sponsored Research,” the Informed Consent form of 23andMe states: “We will analyze your genetic and other voluntarily contributed personal information as part of our scientific research with the purpose of advancing the field of genetics and human health; your account information will never be associated with this research. We may also analyze your genetic and other contributed personal information for the purpose of reviewing, improving, and expanding our features and services. We may ask you questions and you may choose to give us information about yourself through surveys or other features on our website. Contributed personal information might include age, sex, geographic ancestry, attitudes and health conditions you have experienced. Providing such contributed personal information is entirely voluntary and is not required as part of your use of this Service. And under 'Collaborative Research,’; potential customers are informed that 23andMe may enter into partnerships with other investigators and organizations—non-profit and/or commercial—that conduct scientific research” ( 23andMe, 2009c).

9. Interestingly, a similar mobilization of the notion of “home” (folkehemmet, the nation's home) is used in Swedish discussions of biobanks (Pálsson, 2007). I am grateful to Gísli Pálsson for alerting me to this parallel.