Since 2007, consumer genomics companies have marketed personal genome scanning services to assess users’ genetic predispositions to a variety of complex diseases and traits. This study investigates early users’ reasons for utilizing personal genome services, their evaluation of the technology, how they interpret the results, and how they incorporate the results into health-related decision-making. The analysis contextualizes early users’ relationships to the technology, the knowledge generated by it, and how it mediates their relationship to their own health and to biomedicine more broadly. The results reveal that early users approach personal genome scanning with both optimism for genomic research and scepticism about the technology’s current capabilities, which runs contrary to concerns that consumers may be ill equipped to interpret and understand genome scan results. These findings provide important qualitative insight into early users’ conceptualizations of personal genomic risk assessment and illuminate their involvement in configuring this technology in the making.

This paper investigates how groups of 'citizen scientists' in non-traditional settings and primarily online networks claim to be challenging conventional genomic research processes and norms. Although these groups are highly diverse, they all distinguish their efforts from traditional university-or industry-based genomic research as being 'participant-driven' in one way or another. Participant-driven genomic research (PDGR) groups often work from 'labs' that consist of servers and computing devices as much as wet lab apparatus, relying on information-processing software for data-driven, discovery-based analysis rather than hypothesis-driven experimentation. We interviewed individuals from a variety of efforts across the expanding ecosystem of PDGR, including academic groups, start-ups, activists, hobbyists, and hackers, in order to compare and contrast how they relate their stated objectives, practices, and political and moral stances to institutions of expert scientific knowledge production. Results reveal that these groups, despite their diversity, share commitments to promoting alternative modes of housing, conducting, and funding genomic research and, ultimately, sharing knowledge. In doing so, PDGR discourses challenge existing approaches to research governance as well, especially the regulation, ethics, and oversight of human genomic information management. Interestingly, the reaction of the traditional genomics research community to this revolutionary challenge has not been negative: in fact, the community seems to be embracing the ethos espoused by PDGR, at the highest levels of science policy. As conventional genomic research assimilates the ethos of PDGR, the movement's 'democratizing' views on research governance are likely to become normalized as well, creating new tensions for science policy and research ethics.

BackgroundMany commentators on “direct-to-consumer” genetic risk information have raised concerns that giving results to individuals with insufficient knowledge and training in genomics may harm consumers, the health care system, and society. In response, several commercial laboratories offering genomic risk profiling have shifted to more traditional “direct-to-provider” (DTP) marketing strategies, repositioning clinicians as the intended recipients of advertising of laboratory services and as gatekeepers to personal genomic information. Increasing popularity of next generation sequencing puts a premium on ensuring that those who are charged with interpreting, translating, communicating and managing commercial genomic risk information are appropriately equipped for the job. To shed light on their gatekeeping role, we conducted a study to assess how and why early clinical users of genomic risk assessment incorporate these tools in their clinical practices and how they interpret genomic information for their patients.Methods and FindingsWe conducted qualitative in-depth interviews with 18 clinicians providing genomic risk assessment services to their patients in partnership with DNA Direct and Navigenics. Our findings suggest that clinicians learned most of what they knew about genomics directly from the commercial laboratories. Clinicians rely on the expertise of the commercial laboratories without the ability to critically evaluate the knowledge or assess risks.ConclusionsDTP service delivery model cannot guarantee that providers will have adequate expertise or sound clinical judgment. Even if clinicians want greater genomic knowledge, the current market structure is unlikely to build the independent substantive expertise of clinicians, but rather promote its continued outsourcing. Because commercial laboratories have the most “skin in the game” financially, genetics professionals and policymakers should scrutinize the scientific validity and clinical soundness of the process by which these laboratories interpret their findings to assess whether self-interested commercial sources are the most appropriate entities for gate-keeping genomic interpretation.

Through archival analysis this article traces the emergence, maintenance, and enhancement of biogerontology as a scientific discipline in the United States. At first, biogerontologists' attempts to control human aging were regarded as a questionable pursuit due to: perceptions that their efforts were associated with the long history of charlatanic, anti-aging medical practices; the idea that anti-aging is a “forbidden science” ethically and scientifically; and the perception that the field was scientifically bereft of rigor and scientific innovation. The hard-fought establishment of the National Institute on Aging, scientific advancements in genetics and biotechnology, and consistent “boundary work” by scientists, have allowed biogerontology to flourish and gain substantial legitimacy with other scientists and funding agencies, and in the public imagination. In particular, research on genetics and aging has enhanced the stature and promise of the discipline by setting it on a research trajectory in which explanations of the aging process, rather than mere descriptions, have become a central focus. Moreover, if biogerontologists' efforts to control the processes of human aging are successful, this trajectory has profound implications for how we conceive of aging, and for the future of many of our social institutions.