Direct-to-consumer theranostics, 21st century collective innovation and entrepreneurship

Abstract

Interview with Vural Özdemir (McGill University, Montreal, QC, Canada) and Edward S Dove (Columbia University, New York, NY, USA)

Professor Prainsack earned her PhD at the University of Vienna (Austria) and was awarded the prize for the ‘Best Political Science Dissertation’ of 2003–2004 by the Austrian Political Science Association. As a faculty and principal investigator, she held numerous research grants, including the ‘Genes Without Borders – Towards Global Genomic Governance’ from the Austrian Ministry of Science and Research. She has been a visiting professor in International Studies at Ramkamhaeng University (Bangkok, Thailand) and at Goethe University (Frankfurt am Main, Germany) and held a 6-month Fellowship on ‘Solidarity as a Core Value in Bioethics’ at the Nuffield Council on Bioethics (London, 2011). Professor Prainsack is currently the UK’s representative for the European Co-operation in the field of Science and Technology (COST) Domain Committee for Individuals, Societies, Cultures and Health (ISCH), and a member of the National Bioethics Commission in Austria. In 2011 she was appointed as the Chair of the new European Science Foundation’s (ESF) Forward Look on Personalized Medicine for the European Citizen.

Some might consider theranostics as a ‘game changer’: it not only broadens the scope of 21st century science, it also entails new ways of ‘doing science’. In particular, citizen scientists engaging in the selection of study hypotheses and designs, as well as collection of phenotypic data in geographically distributed forms of data-intensive ‘omics’ sciences (e.g., genomics, proteomics, metabolomics). Theranostics thus signals a move towards collective innovation and a ‘horizontalization’ of 21st century knowledge production that moves beyond traditional technology experts in laboratories and ivory towers.

For decades, certain expert communities (e.g., physicists) have been cognizant of science as a collective endeavor, but it could be argued that scientists working with data-intensive ‘omics’ technologies in the theranostics field have only recently begun to move from the ‘one scientist, one project’ model to ‘collective innovation’. With open science initiatives, crowdsourcing of scientific discoveries and direct-to-consumer (DTC) availability of theranostic tests, the scope and number of people who now contribute to postgenomics science have broadened [1]. An important question is how do we make sense of DTC theranostics and the contribution of citizen scientists and other nonprofessionals to scientific discoveries in the postgenomics era? Is there a need for new ways of understanding knowledge-based innovations in the 21st century?

There is indeed a lot of excitement about changes in the way that scientific knowledge is produced; with academic papers being co-authored by players of computer games or patients publishing self-organized studies – nonprofessionally trained people are now at strategically important positions in the research process. Scientific ‘amateurs’ can now design research studies and contribute to data analysis and the interpretation and development of applications. It is unsurprising that so many innovative impulses come from within the health domain; who could be more motivated to contribute to the search for better treatment options than a patient or family member? At the same time, it must be remembered that scientific knowledge production has always been a collective endeavor to some extent, and the boundary between professional scientists and amateurs has never been very stable. However, two developments are game changers indeed: first is the scale and scope of people who now engage with such initiatives, thanks to the availability of online tools. The second is the role that large datasets play in medical research and practice. Every day we read or hear about the challenge of ‘big data’ in medicine. Without the participation of patients and others in collecting, integrating, analyzing and interpreting high-quality data, personalized medicine will not be achievable. At the same time, not everything that involves patients or citizens is automatically good and useful. Patients and citizens have better expertise or information than other actors in some respects and vice versa. Theranostics is a good illustration of this.

Advocates of DTC theranostics emphasize personal responsibility for health and empowerment of individuals, while critics suggest banning or imposing stricter regulations on DTC testing. Using the notion of ‘biological citizenship’, Rose and Novas have aptly described how individuals increasingly think of themselves in biological terms [2], to be refashioned by ‘regimes of exercise, diet and also of testing and scanning, to conform to individual desires and to social expectations about what constitutes a ‘healthy’ and productive body [3]’. To this end, you and Richard Tutton [4] have recently suggested, drawing on debates on neoliberalism, modern health discourses and subjectivity, the emergence of a new enterprising research subject as a contrast to the notion of altruistic participation in science. Do the notions of biological citizenship and entrepreneurial self-signal a new era for how and why we do science in the postgenomics era?

Empirical research shows that neither of the biggest hopes for DTC genome testing – that people would embrace healthier lifestyles as a result – nor the fears that they would get needlessly worried, have materialized. Now it is time to turn to some of the deeper questions. Why do people engage with genomics on the internet? How do they see the utility of this? Clinical utility is not a very useful term here, because it is too narrow. In addition, genomic data do not play an isolated role in online platforms. Many people, when they buy a genetic test from the consumer genomics testing company 23 and Me, for example, do much more than get a genotypic test; they also upload phenotypic and lifestyle information and learn about nongenetic dimensions of health and disease. Restricting discussions about the utility of this to clinical utility is not helpful. However, the empowerment rhetoric employed by many companies is problematic as well, because it implies a black-or-white dichotomy: engaging with one’s genetic and genomic data online is not either good or bad – it always depends on the expectations of the person, what they get out of it and what their motivation is. If people spend money that they don’t really have on health-related tests online because they feel it is their duty as a responsible patient or parent, then this is a problem. Similarly, if somebody is very concerned about the privacy of their data, it is an issue that some online platforms – not only commercial ones, but also not-for-profit platforms – hide relevant information in small print. And perhaps most importantly, people who receive and share data on such platforms should be aware that they are creating value for somebody else: for other patients, but often also for private profit. If they are happy to do so, then it is fine – but they need to know.

Scholars of the social studies of science and technology have underscored the need for early engagement with the general public, particularly at the design stage of emerging technologies and innovations [5–9]. However, postgenomics science is still conducted to a large extent by technology ‘experts’. If the public are engaged at all, this appears to take place during the ‘downstream’ product uptake phase (e.g., for adoption of genomics tests for personalized medicine). What should be borne in mind for sound early engagement between scientists and the public in reference to emerging theranostics innovations?

Applying the term democracy to genomics raises false expectations. Democracy is an approach to distributing power and agency in the formulation of binding societal and political norms; it is not an ideal applicable to all areas of life. Accountability and participation are better terms for thinking about public engagement with research. Research that is supported by public funds must be accountable to the public. Moreover, innovation is often better and politically and socially more robust, meaning that it does not conflict with widely shared values and practices, when citizens are involved from the start. How exactly they should be involved depends on what the project seeks to achieve. The main difference is between projects that are organized by a professional research outfit or a company, which then reaches out to involve users or citizens (top-down), and projects that are organized by ‘lay people’, such as patients (bottom-up). Recently we have seen more of the latter kind, particularly in theranostics.

‘One health’ is an emerging frame that dissolves the artificial boundaries among human, animal and environmental (e.g., microorganism) health. You have developed the notion of ‘genes without borders’ and the need to work beyond the traditional Westphalian nation-state paradigm for 21st century global science. Do you foresee that theranostics, at this early phase of its R&D, might stand a chance to advance under the ethos of one health and genes without borders? Is there reason for cautious optimism that new concepts such as ‘one health’ may offer a way forward for global theranostics: with the potential added value of reconciliation among human populations, cultures and ways of living and knowing?

The work of the Human Microbiome Project Consortium [10] and the One Health [101] initiative is very exciting, but when challenging the boundaries between humans, animals and the environment, we should be cautious of overemphasizing novelty here. Discussions surrounding the blurred boundary between humans and animals are at least as old as written human history. There is a difference between the ontological and methodological levels here. Ontologically, the insight that humans and their living and nonliving human environment are inseparably connected is by no means new. Methodologically, however, newer research areas, such as microbiomics, but also epigenetics, represent the beginning of a paradigm shift: for some decades, the focus was on studying phenomena primarily in terms of their elements. Traditional medical specializations mirror this. More recently, we are shifting towards approaches that emphasize complexities and interconnectedness. We increasingly employ system-based approaches, whereby the boundaries of the system become wider. We still study systems by looking at the elements in it, but increasingly we focus on the interactions between the elements, as well as emergent phenomena.

Financial & competing interests disclosure

The author (Prainsack) and interviewees (Özdemir and Dove) have no relevant affiliations or financial involvement with any organization or entity with a financial interest in or financial conflict with the subject matter or materials discussed in the manuscript. This includes employment, consultancies, honoraria, stock ownership or options, expert testimony, grants or patents received or pending, or royalties.

No writing assistance was utilized in the production of this manuscript.