Screening for cancer in the post-genomic era: diagnostic innovation and biomedicalisation in comparative perspective

PI: Stuart Hogarth, Department of Sociology, University of Cambridge.

This project has received funding from the European Research Council (ERC) under the European Union’s Horizon 2020 research and innovation programme under grant agreement No 716689

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How do new diagnostic tests find their way into practice? What are the relative roles of industry and the public sector in the discovery, development and adoption of new biological markers of disease (i.e., biomarkers)? There is now an extensive body of interdisciplinary research on the political economy of pharmaceutical innovation, and the role of drug firms as corporate “engines of medicalisation”, but we know relatively little about the part played by diagnostics firms in bringing new technologies into routine clinical practice, or their impact on the creation of new disease categories. Building on previous research by the PI and collaborators, the aim of this project is to address this empirical gap and provide a new conceptual framework for understanding the changing dynamics of diagnostic innovation.

Diagnostic innovation in transition: a conceptual model  Diagnostic innovation has generally been characterised as a process emerging at the interface between academic science and clinical practice, but recent evidence suggests that industry is taking a more central role in the process. In our recent research on the development and adoption of molecular diagnostics for cervical cancer screening in India, the USA and UK, we have suggested that this corporatisation of R&D can be linked to two other dynamics. Firstly, diagnostics firms are adopting the business models and marketing practices of their counterparts in the pharmaceutical sector (pharmaceuticalisation). Secondly, there has been a proliferation of new regulatory mechanisms governing diagnostic innovation (regulatory expansion). These trends are coterminous with, and at least in part driven by, the growth of the molecular diagnostics sector in the post-genomic era (molecularisation). Cumulatively these four interlinked dynamics may constitute a major socio-technical transition in the diagnostics industry. This transition may be understood as a sectoral-specific instance of a broader transformation in the global medical-industrial complex which a growing body of recent scholarship has characterised as a new era of biomedicalisation.

Understanding this socio-technical transition is important, given the weight of expectations surrounding diagnostic innovation in the post-genomic era. Researchers are discovering new biomarkers in the genome, the proteome, and the metabolome, which together may form the basis of a new molecular taxonomy of disease. However, hopes for a new “age of diagnostics” are accompanied by concerns about scientific standards in biomarker research and much uncertainty about how best to use public policy to steer innovation in the diagnostics sector. Some commentators urge more financial incentives for industrial R&D: others defend the value of a largely public sector innovation process; some express concerns about under-regulation: others warn of over-regulation. However, due to the paucity of research on diagnostic innovation, this policy discussion is driven more by anecdote and expert opinion than empirical evidence.

Aims  Our aim is to test the generalisability of our conceptual model and explore the nature, causes, and effects of this putative socio-technical transition across a range of diseases and technologies by mapping industry dynamics, technological trajectories and regulatory developments in cancer screening, with a focus on three site-specific cancers: prostate, lung, and bowel.

  • Using a comparative and longitudinal method, we will explore how transnational dynamics have interacted with local factors to influence the scale and pace of socio-technical transition in the diagnostics sector across France, the UK and the USA from 1996 to the present day.
  • Through a novel integration of conceptual insights from the literature on biomedicalisation and scholarship on socio-technical regime change, this project aims to advance both fields of research by applying a new multi-scale multi-level model of socio-technical transition.
  • Finally, we hope this groundbreaking contribution to our understanding of diagnostic innovation can establish a platform for a broader body of research, and inform deliberation on responsible research and innovation in the sector.

Why screening?  Given the aims of this study, medical screening/early detection is a highly suitable focus because it exemplifies the commercial expectations that surround molecular technologies and the complexities of clinical adoption. Viewed by industry as a “blockbuster” opportunity, cancer screening has attracted significant private R&D investment. Such a proactive industry role is in stark contrast to the story of screening innovation in the 20th century which was driven largely by public funding and academic research.

Screening is also fertile ground for exploring the role of diagnostics firms as ‘engines of medicalisation’, because new screening technologies blur the boundaries between the normal and the pathological and within, and between, disease categories. The benefits of screening are increasingly contested, with concerns about the medical, economic and psycho-social impact of over-diagnosis and over-treatment. Even the American Cancer Society, a charity which was founded to champion cancer screening a century ago, has begun to express a more cautious attitude. Its Chief Medical Officer has stated that “… American medicine has overpromised when it comes to screening.” The extension of screening to new cancers thus carries potential risks which underline the importance of using public policy to steer a responsible approach to diagnostic innovation and the value of social science enquiry to investigate the new corporate drivers of medicalisation in this field.

Screening is also an ideal site to study the dynamics of regulatory expansion in diagnostic innovation, because this growing scepticism has complicated clinical adoption, with intense debate about screening interventions and the emergence of screening-specific governance structures, such as the UK’s National Screening Committee and the United States Preventive Services Task Force (USPSTF). Research funding agencies such as the US National Cancer Institute (NCI) and Cancer Research UK (CRUK) have responded to concerns about the lack of scientific rigour in biomarker research by promulgating new standards for study design and the phasing of R&D.

Research questions  Our research questions reflect our conceptual model of socio-technical transition in the diagnostics sector:

1) Corporatisation of Research & Development (R&D): How are relationships between public and private sector actors in diagnostic R&D changing? What is driving these changes? What is the effect on the distribution of risks and rewards among actors, and how is this justified?

2) Pharmaceuticalisation of business models: Are diagnostics firms adopting pharmaceutical industry business strategies to capture value, including through biomarker patenting, or new marketing and pricing strategies? What rationales justify different business models, and how do other actors respond?

3) Regulatory expansion: How are the regulatory regimes for new health technologies evolving with diagnostic developments? What pressures are being responded to, and how (and to whom) is the regime’s legitimacy and accountability demonstrated? How coordinated is this regime across mechanisms (i.e., market access, coverage, clinical guidelines) and across clinical areas and jurisdictions?

4) Molecularisation To what extent are the dynamics of corporatisation, pharmaceuticalisation and regulatory expansion being driven by the emergent molecular diagnostics sector of the IVD industry? Do molecular tests supplant or supplement existing diagnostic technologies? How are these technologies reconfiguring disease categories and redrawing the boundaries between health and sickness?

Methods  The project will integrate qualitative and quantitative methods including scientometrics, semi-structured interviews and non-participant observation. The project will be underpinned by a broad mapping of cancer screening innovation using a suite of scientometric techniques and we will integrate multiple data sources to allow novel linkages of scientific funding, science outputs, patented commercial applications and regulatory/reimbursement decisions. To ensure the feasibility of this data-intensive approach, our research will be focused on a restricted set of three site-specific cancers (prostate, lung, and bowel).

Data collection will be organised in two phases, proceeding from a broad mapping exercise, but then narrowing in focus for a series of more detailed comparative case studies. Thus in Phase One the main technologies, activities, actors, institutions and networks will be mapped by gathering data on screening innovation across the three site-specific cancers. The mapping of industry and research domains (work package one) will be global in geographical scope, but for reasons of feasibility, the mapping of the regulatory domain will be narrower, covering the three countries to be studied in phase two (France, UK and USA), as well as transnational institutions (e.g. WHO/IARC and EU). Then in Phase Two we will use a case study approach, undertaking a more high-resolution investigation of the dynamics and trends identified in our mapping work through a comparative analysis of the development, marketing, regulation and adoption of a subset of technologies which will be selected at the end of Phase One. Thus we will focus on two screening tests for each of the three cancers (six tests in total) and explore the process of development and adoption for each test in three countries (France, UK, USA), giving a total of 18 cases. The results obtained from the different methodological approaches will inform each other through an iterative and cumulative synthesis of the data from across the work packages. Data synthesis will be organised along cross-cutting themes (defined by our four-pronged conceptual framework), as well as by disease, technology, and country.