Genomics and Society

Ethical, Legal, Cultural and Socioeconomic Implications

Dhavendra Kumar, Ruth Chadwick

• Publisher: Academic Press
• Year: 2015
• Print ISBN: 9780124201958
• eBook ISBN: 9780127999210
• Topic: Philosophy
• Subtopic: Genetics & Genomics

Genomics and Society; Ethical, Legal-Cultural, and Socioeconomic Implications is the first book to address the vast and thorny web of ELSI topics identified as core priorities of the NHGRI in 2011. The work addresses fundamental issues of biosociety and bioeconomy as the revolution in biology moves from research lab to healthcare system. Of particular interest to healthcare practitioners, bioethicists, and health economists, and of tangential interest to the gamut of applied social scientists investigating the societal impact of new medical paradigms, the work describes a myriad of issues around consent, confidentiality, rights, patenting, regulation, and legality in the new era of genomic medicine. - Addresses the vast and thorny web of ELSI topics identified as core priorities of the NHGRI in 2011 - Presents the core fundamental issues of biosociety and bioeconomy as the revolution in biology moves from research lab to healthcare system - Describes a myriad of issues around consent, including confidentiality, rights, patenting, regulation, and more

Chapter 1

Personal Genomics and its Sociotechnical Transformations

Richard Tutton, Senior Lecturer, Department of Sociology and Centre for Science Studies, University of Lancaster, UK

Abstract

This chapter provides a critical reflection upon the sociotechnical expectations that characterized the emergence of “personal genomics” as a form of direct-to-consumer genetic testing in 2007. Situated in a broader social science debate about “transformative” accounts of genomics, as representing a significant break with the past, it queries whether “personal genomics” has amounted to a reconfiguration of the sociotechnical relationships between healthcare organizations, professionals, and patients, in which both the production and use of healthcare information is fundamentally changed.

Keywords

Personal genomics; direct-to-consumer genetic testing; science and technology studies; genetic risk information; 23andMe

Contents

Introduction 1

Personal Genomics and its Sociotechnical Expectations 3

Personal Genomics in Perspective 7

Personal Genomics and the Extent of Sociotechnical Change 14

Conclusion 17

Note 17

References 17

Introduction

In 2011, plant geneticist Jonathan Latham published a short and stinging commentary on the state of genomics under the eye-catching headline “The failure of the genome.” Noting how the billions of dollars spent on GWAS (genome-wide association studies) had yielded “only a handful of [gene variants] of genuine significance for human health,” Latham concludes that this situation represents the “most profound crisis that the science has faced” [1]. This downbeat evaluation was not an isolated example: as the 10-year anniversary of completion of the human genome sequence arrived, a number of other authors came to similar conclusions about what had been achieved measured against what had been expected of genomics in the 1990s. Back then, scientists had made the case that sequencing the human genome would serve to accelerate biomedical research and provide tools to elucidate the mechanisms and causes of human disease. Supporters of the Human Genome Project claimed it would bring about a profound transformation in drug development and the practice of medicine. Geneticist Bodmer and journalist McKie [2] saw that the Human Genome Project “will become the mainstay of the pharmaceutical industry in the next century,” and its public funding also helped to bring into being a new start-up sector of firms which aimed to leverage proprietary gene sequence databases, bioinformatics software, and other informational-based tools to do business with biotechnology or pharmaceutical companies by selling access to these resources with the promise that they would aid disease gene discovery and the development of new drugs. Walter Gilbert—founder of Myriad Genetics Inc., one of the first firms created to commercially exploit human genome research—envisioned that “the possession of a genetic map and the DNA sequence will transform medicine. One of the benefits of genetic mapping will be the ability to develop a medicine tailored to the individual: drugs without side effects” [3].

Almost two decades later, Evans et al. [4] however note that: “some wonder what became of all the genomic medicine we were promised” and call into question the unrealistic expectations which fueled a “genomics bubble” in the 2000s. Collins [5] who served as the Director of the Human Genome Project, also asked in an opinion piece published in Nature “Has the revolution arrived?” He responds by acknowledging that the impact of genomics on clinical medicine has been “modest” but concludes that: “the promise of a revolution in human health remains quite real. Those who somehow expected dramatic results overnight may be disappointed, but should remember that genomics obeys the First Law of Technology: we invariably overestimate the short-term impacts of new technologies and underestimate their longer-term effects.”

These debates among scientists and clinicians about the revolutionary and transformative effect of genomics has run in parallel with discussions within the social sciences about genomics and its anticipated social impacts. In the 1990s, social scientists entertained tenebrous imaginings of the future [6,7]: Lippman [6] warned about the effect of genetics on changing social relationships, values, and reinforcing inequalities in power whereby elites would use genetic knowledge and technologies on others in society. Other social scientists, however, such as Giddens [8], were more positive in envisaging that new genetic interventions would empower individuals to make their own reproductive, medical, and social choices. Geneticization as an anticipation of the significant social transformational effects that genomics would have in the near future gave impetus to a growing field of social science research, some of which was funded by the ELSI (Ethical, Legal, and Social Implications) component of the Human Genome Project itself. In Great Britain, as the completion of the human genome neared, and concerns about the social impact of genomics rose up the policy agenda, so significant resources were given to social science to address the wider social transformations which genomics would bring about. For funders, their particular concern was with how publics would respond to genomics given the difficulties experienced in relation to genetically modified (GM) food and other scientific controversies of the 1990s, set against the promise of genomics to deliver huge economic benefits [9]. For 10 years, the ESRC (Economic and Social Research Council) funded four different academic centers to conduct and disseminate social science and bioethical research on genomics.

For Science and Technology Studies scholars Hedgecoe and Martin [10], the “transformative power of genomics” in both its promising and tenebrous registers, assumes that the “scientific and technological developments [in genomics are] somehow revolutionary, encapsulating a break from what has gone before at both a technical and social level.” However, they note that not all social scientists writing about various aspects of genomics would subscribe to a “transformative” account of genomics and indeed have challenged precisely this view by pointing to continuities with the past. Against their own skepticism about the scale of the transformations brought about genomics, Hedgecoe and Martin set out to explore two questions in their own wide-ranging discussion. They ask (i) what are the sociotechnical expectations and transformations associated with genomics and (ii) what is seen as new or specific to genomics and what is the extent of the sociotechnical change? In this chapter, I draw on these two questions to provide a framework for my own engagement with the sociotechnical transformations brought about by or through genomics, specifically, with reference to one particular case study, that of personal genomics.

The science journalist Stix first coined the term “personal genomics” in 2002 to describe efforts to develop greater knowledge of individual variation in the human genome. “Personal genomics” signified a move away from the “one genome fits all” of the single sequence produced by the Human Genome Project using the DNA of a very few individuals to the sequencing or genotyping many thousands of individual genomes to identify ways in which they differ [11]. Following his own involvement in the Human Genome Project, the scientist and entrepreneur George Church launched the Personal Genome Project in 2005. Beginning with the genomes of 10 academics and entrepreneurs, the initiators of the Personal Genome Project spoke of how “we foresee a day when many individuals will want to get their own genome sequenced so that they may use this information to understand such things as their individual risk profiles for disease, their physical and biological characteristics, and their personal ancestries” [12]. While the Personal Genome Project is an academic venture, the idea of people having access to and analyzing their own individual genomes became the basis of a consumer service in 2007 with the launch of three companies that offered users information about disease risk, drug response, ancestry, and other traits for a price. These services were marketed under the rubric of “personal genomics.” My chapter therefore explores two questions in relation to personal genomics: (i) what were and continue to be the sociotechnical expectations and transformations associated with personal genomics? and (ii) what was seen as new or specific to personal genomics and what is the extent of the sociotechnical change brought out by developments in personal genomics?

Personal Genomics and its Sociotechnical Expectations

In 2007, three firms—23andMe, deCODEMe, and Navigenics—launched their “personal genome” services onto the US market. 23andMe LLC and Navigenics Inc. were both new players—start-ups funded by venture capital investment. 23andMe was cofounded by Linda Avey, whose background was in sales and marketing and by Anne Wojcicki who had a previous career as an investment analyst, while Navigenics was set up by an oncologist David Agus and Dietrich Stephan, a geneticist. Unlike the two start-ups, deCODEMe was an offshoot of deCODE Genetics Inc. which had been established in 1996 to develop a population-based genetic resource in Iceland and had actually designed and conducted a number of GWAS and developed its own line of diagnostics.¹ In 2007, it launched its own dedicated consumer service—deCODEMe—as part of a strategy to generate near-term revenues for the company which was incurring significant losses. These three services were followed by a number of other companies which also offered similar services, including Pathway Genomics that launched in 2009.²

The appearance of these services has attracted considerable comment and analysis from inter alia social scientists, lawyers, bioethicists, policy advisors, and clinicians about how these services are currently and should be regulated in the future, their scientific reliability and the lack of laboratory standards, concern about fraud, scams and incredulous offerings, the quality of consumer information produced by companies and how results of tests will be interpreted and acted upon by users, and the role of medical professionals as gatekeepers and interpretative authorities of disease risk. In what follows below I outline the principal sociotechnical expectations of personal genomics that emerged around the time of the launch of the first services on the market. These are that companies would “democratize” the genome by offering a direct-to-consumer (DTC) service, cutting out the clinician as gatekeeper, and that their users would be empowered by receiving genetic risk information in this way to make decisions about their future health. Conversely, regulators, clinicians, and policy advisors challenged these expectations as in part unrealistic and that they imperiled the future of genomic medicine; they also articulated their own darker expectations that, far from being empowered, users would suffer anxiety and make inappropriate use of finite healthcare resources.

In 2007, New York Times journalist Hamon commented that: “the exploration of the human genome has long been relegated to elite scientists in research laboratories. But that is about to change. An infant industry is capitalizing on the plunging cost of genetic testing technology to offer any individual unprecedented—and unmediated—entree to their own DNA” [13]. In marketing their services to prospective consumers, these companies adopted the language of empowerment, claiming that genetic risk information renders the future health more calculable and therefore more open to individual control. The companies stressed that “these DNA tests don’t reveal your destiny. But they do provide a map that can help guide your future” [14]; as the Navigenics web site declared: “your future is more in your control than you might think.” deCODE Genetics explained that:

Now, for the first time in history, you can embark on a novel journey of discovery, guided by deCODE Genetics’ team of pioneers in human gene discovery. deCODEme allows you to study how state-of-the-art scientific knowledge about human genetics applies to a scan of your own genome and to compare your information with that of others. With this information you’ll be empowered to discover more about your past, present and future. [14]

These companies were not diagnosing in someone the presence or absence of a disease but providing probabilistic information about their likelihood of developing a disease or diseases in some form in their lifetime based, in part, on the firm’s analysis of their genome. They are producing “future truths” which users may or may not come to inhabit. For the firms, the prospect of the future turning out otherwise was central to how they were marketing their service: it was founded on the belief that affirmative choices of users today to reshape their own life practices could prevent, delay, or ameliorate whatever comes to afflict them in the future [15]. As Navigenics stated at its launch in 2007: “the company will help people understand their genetic predisposition to disease and arm them with information about what action to take to help them stay healthy” [16]. The CEO of deCODE Genetics Inc. was quoted in a corporate press release as saying: “in an era when we are encouraged to take greater personal control of our lifestyle and health, we believe we should all have the opportunity to learn what our own genome can tell us about ourselves” [14]. It chimed with the proposition that personalized medicine not only involved the actions of scientists and healthcare professionals but also the active participation of patients and consumers [...

Table of contents

• Cover image
• Title page
• Table of Contents
• Copyright
• Dedication
• List of Contributors
• Foreword
• Preface: Introduction to Social and Economic Genomics
• Acknowledgments
• Chapter 1. Personal Genomics and its Sociotechnical Transformations
• Chapter 2. Genetics, Genomics, and Society: Challenges and Choices
• Chapter 3. Genomics and Patient Empowerment
• Chapter 4. The Expanding Scope of Gen-Ethics
• Chapter 5. Health Economic Perspectives of Genomics
• Chapter 6. Legal Aspects of Health Applications of Genomics
• Chapter 7. Genomics, Patents, and Human Rights
• Chapter 8. Teaching Genetics and Genomics for Social and Lay Professionals
• Chapter 9. Engaging and Empowering Public and Professionals in Genomics
• Chapter 10. The “Life Costs” of Living with Rare Genetic Diseases
• Chapter 11. Genomics and the Bioeconomy: Opportunities to Meet Global Challenges
• Chapter 12. Socioeconomic Outcomes of Genomics in the Developing World
• Chapter 13. Roles of Genomics in Addressing Global Food Security
• Chapter 14. Genomics and Traditional Indian Ayurvedic Medicine
• Chapter 15. Genomics and Traditional Chinese Medicine
• Chapter 16. Human Genetics and Genomics and Sociocultural Beliefs and Practices in South Africa
• Chapter 17. Genomics and Spirituality
• Chapter 18. The Sociodemographic and Economic Correlates of Consanguineous Marriages in Highly Consanguineous Populations
• Chapter 19. The International Law and Regulation of Medical Genetics and Genomics
• Glossary: “Genomics and Society”
• Index