Stuart Hogarth

The current landscape for direct-to-consumer genetic testing: legal, ethical, and policy issues.

This review surveys the developing market for direct-to-consumer (DTC) genetic tests and examines the range of companies and tests available, the regulatory landscape, the concerns raised about DTC testing, and the calls for enhanced oversight. We provide a comparative overview of the situation, particularly in the United States and Europe, by exploring the regulatory frameworks for medical devices and clinical laboratories. We also discuss a variety of other mechanisms such as general controls on advertising and consumer law mechanisms.

Reflections on the Cost of "Low-Cost" Whole Genome Sequencing: Framing the Health Policy Debate

The future clinical applications of whole genome sequencing come with speculation and enthusiasm but require careful consideration of the true system costs and health benefits of the clinical uses of this exciting technology.

Negotiating the boundary between medicine and consumer culture: online marketing of nutrigenetic tests

Genomics researchers and policy makers have accused nutrigenetic testing companies—which provide DNA-based nutritional advice online—of misleading the public. The UK and USA regulation of the tests has hinged on whether they are classed as “medical” devices, and alternative regulatory categories for “lifestyle” and less-serious genetic tests have been proposed. This article presents the findings of a qualitative thematic analysis of the webpages of nine nutrigenetic testing companies. We argue that the companies, mirroring and negotiating the regulatory debates, were creating a new social space for products between medicine and consumer culture. This space was articulated through three themes: (i) how “genes” and tests were framed, (ii) how the individual was imagined vis a vis health information, and (iii) the advice and treatments offered. The themes mapped onto four frames or models for genetic testing: (i) clinical genetics, (ii) medicine, (iii) intermediate, and (iv) lifestyle. We suggest that the genomics researchers and policy makers appeared to perform what Gieryn (Gieryn, T.F. (1983). Boundary-work and the demarcation of science from non-science: strains and interests in professional ideologies of scientists. American Sociological Review, 48, 781–795.) has termed “boundary work”, i.e., to delegitimize the tests as outside proper medicine and science. Yet, they legitimated them, though in a different way, by defining them as lifestyle, and we contend that the transformation of the boundaries of science into a creation of such hybrid or compromise categories is symptomatic of current historical times. Social scientists studying medicine have referred to the emergence of “lifestyle” products. This article contributes to this literature by examining the historical, regulatory and marketing processes through which certain goods and services become defined this way.

The future of direct-to-consumer clinical genetic tests

In light of the meeting of the US Food and Drug Administration (FDA) in March 2011 to discuss the regulation of clinical direct-to-consumer (DTC) genetic tests, we have invited five experts to consider the best means of overseeing the ordering and interpretation of these tests. Should these tests be regulated? If so, who, if anyone, should communicate results to consumers?

A molecular monopoly? HPV testing, the Pap smear and the molecularisation of cervical cancer screening in the USA.

DNA-based molecular testing for human papillomavirus has emerged as a novel approach to cervical cancer screening in the context of well-entrenched existing technology, the Pap smear. This article seeks to elucidate the process of molecularisation in the context of screening programmes. We illustrate how, although Pap has long been problematised and could be seen as a competing technological option, the existing networks and regime for Pap were important in supporting the entrenchment process for the artefacts, techniques and new diagnostics industry entrant, Digene, associated with the new test. The article provides insights into how the molecularisation of screening unfolds in a mainstream market. We reveal an incremental and accretive, rather than revolutionary, process led by new commercial interests in an era when diagnostic innovation is increasingly privatised. We show Digenes reliance on patents, an international scientific network and their position as an obligatory point of passage in the clinical research field with regard to the new technologys role, as well as on controversial new marketing practices. The article is based on a mixed method approach, drawing on a wide range of contemporary sources (including patents, statutory filings by companies, scientific literature and news sources) as well as interviews.

Myths, Misconceptions and Myopia: Searching for Clarity in the Debate about the Regulation of Consumer Genetics

The new wave of companies offering genome scans direct-to-consumer (DTC) has prompted commentary from scientists, clinicians, bioethicists and those interested in the ethical, legal and social issues arising from genomics. It has thus brought a far wider range of actors into a longstanding debate about the regulation of genetic tests. However, some of the recent discussion is characterised by misunderstanding of the regulatory landscape, a failure to grasp the lessons of the past and lack of clarity of thought. In this commentary I challenge a series of myths and misconceptions which plague current academic and policy discussion: the conflation of regulation and proscription; the failure to recognise that DTC companies are gatekeepers; the assumption that requiring a medical intermediary for testing is paternalistic; the belief that online services cannot be regulated; the presumption that we must avoid genetic exceptionalism; the idea that policy is lagging behind science or that it is too soon to act; and finally, the view that DTC genetics is a reality we have to adapt to.

Regenerative medicine in Europe: global competition and innovation governance

Leading European nations with strong biotech sectors, such as the UK and Germany, are investing heavily in regenerative medicine, seeking competitive advantage in this emerging sector. However, in the broader biopharmaceutical sector, the EU is outperformed by the USA on all metrics, reflecting longstanding problems: limited venture capital finance, a fragmented patent system, and relatively weak relations between academia and industry. The current global downturn has exacerbated these difficulties. The crisis comes at a time when the EU is reframing its approach to the governance of innovation and renewing its commitment to the goal of making Europe the leading player in the global knowledge economy. If the EU is to gain a competitive advantage in the regenerative medicine sector then it must coordinate a complex multilevel governance framework that encompasses the EU, member states and regional authorities. This article takes stock of Europes current competitive position within the global bioeconomy, drawing on a variety of metrics in the three intersecting spheres of innovation governance: science, market and society. These data then provide a platform for reviewing the problems of innovation governance faced by the EU and the strategic choices that have to be confronted in the regenerative medicine sector.

Biomarker patents for diagnostics: problem or solution?

Patents on genes and other types of biomarkers have caused much controversy, but their importance to diagnostic innovation is in danger of being overlooked.

Personalized medicine: renewing the social science research agenda

Since the launch of the Human Genome Project, there has been a significant investment in research to examine the ethical, legal and social issues (ELSI) of what some have called the molecularization of the life sciences and clinical practice [1]. Myriad issues have been addressed in these ELSI research programs across the world, involving sociologists, economists, anthropologists, political scientists and others. Studies have focused on: gene patents, genetic discrimination, geneticization, the governance of biobanks, the familial implications of genetic testing and the regulation of genetic testing, to name just some of the themes. There is not the space here for a thorough review of the literature on even a single one of these topics, and that is not our intent. Instead, the purpose of this commentary is to highlight some of the key areas where we feel there are still gaps in our knowledge, where new questions should be asked or where novel approaches might bring a fresh perspective. To draw an analogy with genomic science: just as researchers have followed the initial findings from the genome-wide association studies of recent years by pursuing the missing heritability of common disease so the ELSI research program has left social scientists with their own mysterious dark matter to explore. There is widespread expectation that the genomic revolution in biomedical science will usher in an age of personalized (or stratified) medicine. A new molecular taxonomy of disease will emerge in tandem with new diagnostic tools for risk stratification, early detection of disease, prognosis and personalized therapies. The rapid decline in the cost of sequencing, coupled with the postgenomic shift towards proteomics and metabolomics, has increased the pace and volume of biomarker discovery. However, the

Regulatory experiments and transnational networks: the governance of pharmacogenomics in Europe and the United States

Pharmacogenomics is the use of genomic science to study human variability in drug response. Proponents of pharmacogenomics suggest that it will lead to a new era of personalized medicine through a fundamental transformation in the drug discovery and development process. Uncertainty about the regulatory standards and processes for this emergent technology have been widely cited as an obstacle to more widespread and rapid adoption of pharmacogenomics. Pharmacogenomics thus presents an ideal case study of the role of regulators in the co-production of new biomedical technologies. This paper describes the attempt to create a new transnational regulatory regime for pharmacogenomics through the creation of novel regulatory experiments by a transnational network encompassing regulatory agencies, academic scientists and industry. This process has been marked by the creation of new socio-technical spaces in the regulatory regimes for pharmaceuticals – a pre-regulatory space for the sharing of data outside the regulatory decision-making process and a pre-competitive space for the sharing of data between companies. It is marked also by the expansion of a transnational regulatory space for sharing data and setting standards across jurisdictional boundaries.