Count Me In (CMI) was launched in 2015 as a patient-driven research initiative aimed at accelerating the study of cancer genomics through direct participant engagement, electronic consent and open-access data sharing. It is an example of a large-scale direct-to-patient (DTP) research project which has since enrolled thousands of individuals. Within the broad scope of ‘citizen science’, DTP genomics research is defined here as a specific form of ‘top-down’ research endeavour developed and overseen by institutions within the traditional human subjects research (...) context; in novel ways, it engages and recruits patients with defined diseases, consents them for medical information and biospecimens sharing, and stores and disseminates genomic information. Importantly, these projects simultaneously aim to empower participants in the research process while increasing sample size, particularly in rare disease states. Using CMI as a case study, this paper discusses how DTP genomics research raises new questions in the context of traditional human subjects research ethics, including issues surrounding participant selection, remote consent, privacy and return of results. It aims to demonstrate how current research ethics frameworks may be insufficient in this context, and that institutions, institutional review boards and investigators should be aware of these gaps and their role in ensuring the conduct of ethical, novel forms of research together with participants. Ultimately, a broader question is raised of whether the rhetoric of participatory genomics research advocates for an ethic of personal and social duty for contributing to the advancement of generalisable knowledge about health and disease. (shrink)

Recent medical innovations like ‘omics’ technologies, mobile health (mHealth) applications or telemedicine are perceived as part of a shift towards a more preventive, participatory and affordable healthcare model. These innovations are often regarded as ‘disruptive technologies’. It is a topic of debate to what extent these technologies may transform the medical enterprise, and relatedly, what this means for medical ethics. The question of whether these developments disrupt established ethical principles like respect for autonomy has indeed received increasing normative attention during (...) the past years. Yet, more fundamental ethical considerations of a possible disruption of the concept of ‘medical necessity’ (and the potential ensuing clinical ramifications) have been limited if not absent. It is our modest – though morally and practically relevant – aim to address this objective in this article, by exploring how the current wave of allegedly disruptive innovation is invoking a resurgence of this concept and related debates on ‘the’ goal(s) of medicine. (shrink)

Trust relations in the health services have changed from asymmetrical paternalism to symmetrical autonomy-based participation, according to a common account. The promises of personalized medicine emphasizing empowerment of the individual through active participation in managing her health, disease and well-being, is characteristic of symmetrical trust. In the influential Kantian account of autonomy, active participation in management of own health is not only an opportunity, but an obligation. Personalized medicine is made possible by the digitalization of medicine with an ensuing increased (...) tailoring of diagnostics, treatment and prevention to the individual. The ideal is to increase wellness by minimizing the layer of interpretation and translation between relevant health information and the patient or user. Arguably, this opens for a new level of autonomy through increased participation in treatment and prevention, and by that, increased empowerment of the individual. However, the empirical realities reveal a more complicated landscape disturbed by information ‘noise’ and involving a number of complementary areas of expertise and technologies, hiding the source and logic of data interpretation. This has lead to calls for a return to a mild form of paternalism, allowing expertise coaching of patients and even withholding information, with patients escaping responsibility through blind or lazy trust. This is morally unacceptable, according to Kant’s ideal of enlightenment, as we have a duty to take responsibility by trusting others reflexively, even as patients. Realizing the promises of personalized medicine requires a system of institutional controls of information and diagnostics, accessible for non-specialists, supported by medical expertise that can function as the accountable gate-keeper taking moral responsibility required for an active, reflexive trust. (shrink)

Many scientists and doctors hope that affordable genome sequencing will lead to more personalized medical care and improve public health in ways that will benefit children, families, and society more broadly. One hope in particular is that all newborns could be sequenced at birth, thereby setting the stage for a lifetime of medical care and self‐directed preventive actions tailored to each child's genome. Indeed, commentators often suggest that universal genome sequencing is inevitable. Such optimism can come with the presumption that (...) discussing the potential limits, cost, and downsides of widespread application of genomic technologies is pointless, excessively pessimistic, or overly cautious. We disagree. Given the pragmatic challenges associated with determining what sequencing data mean for the health of individuals, the economic costs associated with interpreting and acting on such data, and the psychosocial costs of predicting one's own or one's child's future life plans based on uncertain testing results, we think this hope and optimism deserve to be tempered.In the analysis that follows, we distinguish between two reasons for using sequencing: to diagnose individual infants who have been identified as sick and to screen populations of infants who appear to be healthy. We also distinguish among three contexts in which sequencing for either diagnosis or screening could be deployed: in clinical medicine, in public health programs, and as a direct‐to‐consumer service. Each of these contexts comes with different professional norms, policy considerations, and public expectations. Finally, we distinguish between two main types of genome sequencing: targeted sequencing, where only specific genes are sequenced or analyzed, and whole‐exome or whole‐genome sequencing, where all the DNA or all the coding segments of all genes are sequenced and analyzed.In a symptomatic newborn, targeted or genome‐wide sequencing can help guide other tests for diagnosis or for specific treatment that is urgently needed. Clinicians use the infant's symptoms (or phenotype) to interrogate the sequencing data. These same complexities and uncertainties, however, limit the usefulness of genome‐wide sequencing as a population screening tool. While we recognize considerable benefit in using targeted sequencing to screen for or detect specific conditions that meet the criteria for inclusion in newborn screening panels, use of genome‐wide sequencing as a sole screening tool for newborns is at best premature. We conclude that sequencing technology can be beneficially used in newborns when that use is nuanced and attentive to context. (shrink)

The language of “participant-driven research,” “crowdsourcing” and “citizen science” is increasingly being used to encourage the public to become involved in research ventures as both subjects and scientists. Originally, these labels were invoked by volunteer research efforts propelled by amateurs outside of traditional research institutions and aimed at appealing to those looking for more “democratic,” “patient-centric,” or “lay” alternatives to the professional science establishment. As mainstream translational biomedical research requires increasingly larger participant pools, however, corporate, academic and governmental research programs (...) are embracing this populist rhetoric to encourage wider public participation. We examine the ethical and social implications of this recruitment strategy. We begin by surveying examples of “citizen science” outside of biomedicine, as paradigmatic of the aspirations this democratizing rhetoric was originally meant to embody. Next, we discuss the ways these aspirations become articulated in the biomedical context, with a view to drawing out the multiple and potentially conflicting meanings of “public engagement” when citizens are also the subjects of the science. We then illustrate two uses of public engagement rhetoric to gain public support for national biomedical research efforts: its post-hoc use in the “care.data” project of the National Health Service in England, and its proactive uses in the “Precision Medicine Initiative” of the United States White House. These examples will serve as the basis for a normative analysis, discussing the potential ethical and social ramifications of this rhetoric. We pay particular attention to the implications of government strategies that cultivate the idea that members of the public have a civic duty to participate in government-sponsored research initiatives. We argue that such initiatives should draw from policy frameworks that support normative analysis of the role of citizenry. And, we conclude it is imperative to make visible and clear the full spectrum of meanings of “citizen science,” the contexts in which it is used, and its demands with respect to participation, engagement, and governance. (shrink)

Many countries currently invest in technologies and data infrastructures to foster precision medicine (PM), which is hoped to better tailor disease treatment and prevention to individual patients. But who can expect to benefit from PM? The answer depends not only on scientific developments but also on the willingness to address the problem of structural injustice. One important step is to confront the problem of underrepresentation of certain populations in PM cohorts via improved research inclusivity. Yet, we argue that the perspective (...) needs to be broadened because the (in)equitable effects of PM are also strongly contingent on wider structural factors and prioritization of healthcare strategies and resources. When (and before) implementing PM, it is crucial to attend to how the organisation of healthcare systems influences who will benefit, as well as whether PM may present challenges for a solidaristic sharing of costs and risks. We discuss these issues through a comparative lens of healthcare models and PM-initiatives in the United States, Austria, and Denmark. The analysis draws attention to how PM hinges on—and simultaneously affects—access to healthcare services, public trust in data handling, and prioritization of healthcare resources. Finally, we provide suggestions for how to mitigate foreseeable negative effects. (shrink)

This article highlights the limitations of the tendency to frame health- and wellbeing-related digital tools (mHealth technologies) as empowering devices, especially as they play an increasingly important role in the National Health Service (NHS) in the UK. It argues that mHealth technologies should instead be framed as digital companions. This shift from empowerment to companionship is advocated by showing the conceptual, ethical, and methodological issues challenging the narrative of empowerment, and by arguing that such challenges, as well as the risk (...) of medical paternalism, can be overcome by focusing on the potential for mHealth tools to mediate the relationship between recipients of clinical advice and givers of clinical advice, in ways that allow for contextual flexibility in the balance between patiency and agency. The article concludes by stressing that reframing the narrative cannot be the only means for avoiding harm caused to the NHS as a healthcare system by the introduction of mHealth tools. Future discussion will be needed on the overarching role of responsible design. (shrink)

Governments are investing in precision medicine with the aim of improving healthcare through the use of genomic analyses and data analytics to develop tailored treatment approaches for individual patients. The success of PM is contingent upon clear public communications that engender trust and secure the social licence to collect and share large population-wide data sets because specific consent for each data re-use is impractical. Variation in the terminology used by different programmes used to describe PM may hinder clear communication and (...) threaten trust. Language is used to create common understanding and expectations regarding precision medicine between researchers, clinicians and the volunteers. There is a need to better understand public interpretations of PM-related terminology. This paper reports on a qualitative study involving 24 focus group participants in the multi-lingual context of Singapore. The study explored how Singaporeans interpret and understand the terms ‘precision medicine’ and ‘personalised medicine’, and which term they felt more aptly communicates the concept and goals of PM. Results suggest that participants were unable to readily link the terms with this area of medicine and initially displayed preferences for the more familiar term of ‘personalised’. The use of visual aids to convey key concepts resonated with participants, some of whom then indicated preferences for the term ‘precision’ as being a more accurate description of PM research. These aids helped to facilitate dialogue around the ethical and social value, as well as the risks, of PM. Implications for programme developers and policy makers are discussed. (shrink)

The United States’ ambitious Precision Medicine Initiative proposes to accelerate exponentially the adoption of precision medicine, an approach to health care that tailors disease diagnosis, treatment, and prevention to individual variability in genes, environment, and lifestyle. It aims to achieve this by creating a cohort of volunteers for precision medicine research, accelerating biomedical research innovation, and adopting policies geared toward patients’ empowerment. As strategies to implement the PMI are formulated, critical consideration of the initiative's ethical and sociopolitical dimensions is needed. (...) Drawing on scholarship of nationalism and democracy, we discuss the PMI's construction of what we term “genomic citizenship”; the possible normative obligations arising therefrom; and the ethical, legal, and social challenges that will ensue. Although the PMI is a work in progress, discussion of the existing and emerging issues can facilitate the development of policies, structures, and procedures that can maximize the initiative's ability to produce equitable and socially sensitive outcomes. Our analysis can also be applied to other population-based, precision medicine research programs. (shrink)

Since the turn of the twenty-first century, biomedical psychiatry around the globe has embraced the so-called precision medicine paradigm, a model for medical research that uses innovative techniques for data collection and analysis to reevaluate traditional theories of disease. The goal of precision medicine is to improve diagnostics by restratifying the patient population on the basis of a deeper understanding of disease processes. This paper argues that precision is ill-fitting for psychiatry for two reasons. First, in psychiatry, unlike in fields (...) like oncology, precision medicine has been understood as an attempt to improve medicine by casting out, rather than merely revising, traditional taxonomic tools. Second, in psychiatry the term “biomarker” is often used in reference to signs or symptoms that allow patients to be classified and then matched with treatments; however, in oncology “biomarker” usually refers to a disease mechanism that is useful not only for diagnostics, but also for discovering causal pathways that drug therapies can target. Given these differences between how the precision medicine paradigm operates in psychiatry and in other medical fields like oncology, while precision psychiatry may offer successful rhetoric, it is not a promising paradigm. (shrink)

The biopsychosocial model, which was deeply influential on psychiatry following its introduction by George L. Engel in 1977, has recently made a comeback. Derek Bolton and Grant Gillett have argued that Engel’s original formulation offered a promising general framework for thinking about health and disease, but that this promise requires new empirical and philosophical tools in order to be realized. In particular, Bolton and Gillett offer an original analysis of the ontological relations between Engel’s biological, social, and psychological levels of (...) analysis. I argue that Bolton and Gillett’s updated model, while providing an intriguing new metaphysical framework for medicine, cannot resolve some of the most vexing problems facing psychiatry, which have to do with how to prioritize different sorts of research. These problems are fundamentally ethical, rather than ontological. Without the right prudential motivation, in other words, the unification of psychiatry under a single conceptual framework seems doubtful, no matter how compelling the model. An updated biopsychosocial model should include explicit normative commitments about the aims of medicine that can give guidance about the sorts of causal connections to be prioritized as research and clinical targets. (shrink)

Personalised medicine has been discussed as a medical paradigm shift that will improve health while reducing inefficiency and waste. At the same time, it raises new practical, regulatory, and ethical challenges. In this paper, we examine PM strategies epistemologically in order to develop capacities to address these challenges, focusing on a recently proposed strategy for developing patient-specific models from induced pluripotent stem cells so as to make individualised treatment predictions. We compare this strategy to two main PM strategies—stratified medicine and (...) computational models. Drawing on epistemological work in the philosophy of medicine, we explain why these two methods, while powerful, are neither truly personalised nor, epistemologically speaking, novel strategies. Both are forms of correlational black box. We then argue that the iPSC models would count as a new kind of black box. They would not rely entirely on mechanistic knowledge, and they would utilise correlational evidence in a different way from other strategies—a way that would enable personalised predictions. In arguing that the iPSC models would present a novel method of gaining evidence for clinical practice, we provide an epistemic analysis that can help to inform the practical, regulatory, and ethical challenges of developing an iPSC system. (shrink)

Medicine is said to be moving rapidly down the road towards personalization, but it is not entirely clear how we are to understand this term, or its implications for ethics. In understanding the concept of personalized medicine there are multiple possible interpretations of ‘personalization’ at stake. These may in turn presuppose different concepts of ‘person’, with resulting variations in the ethical implications.

Biomedicine in recent decades has been defined by an increasing tendency to turn social problems into biomedical questions. Precision or personalized health initiatives have gained attention due to...

My doctoral project is a study of epistemological and ethical issues in Evidence-Based Medicine, a movement in medicine which emphasizes the use of randomized controlled trials. Much of the research on EBM suggests that, for a large part of the movement's history, EBM considered expertise, mechanisms, and values to be forces contrary to its goals and has sought to remove them, both from medical research and from the clinical encounter. I argue, however, that expertise, mechanisms and values have important epistemological (...) and ethical roles to play and can be incorporated into the current EBM movement. (shrink)

Much bioethical literature and policy guidances for big data analytics in biomedical research emphasize the importance of trust. It is essential that potential participants trust so they will allow their data to be used to further research. However, comparatively, little guidance is offered as to what trustworthy oversight mechanisms are, or how policy should support them, as data are collected, shared, and used. Generally, “trust” is not characterized well enough, or meaningfully enough, for the term to be systematically applied in (...) policy development. Yet points made in the philosophical literature on trust can help. They allow us, not only to better distinguish the different ways the term “trust” may be interpreted, but also to better determine how different approaches to trust can align with policy and governance—in what ways they may relate to key bioethical concepts and related laws, and in what ways they can help to balance individual and group interests in data sharing. This article draws from the philosophical literature on trust to identify a relationship among consent, trust, and justice. Specifically, parallels are drawn between “character-trustworthiness” and “natural justice,” a set of widely held legal safeguards intended to ensure decision-makers follow a pattern of procedural fairness which protects the rights of the individual and thereby maintains public confidence in the decision-making process. Relevance to traditional bioethical principles, established laws, and consent procedures are addressed throughout. In conclusion, policy actions are suggested. (shrink)

Galasso (2024) helpfully puts her finger on what is perhaps the most troubling feature of precision medicine research today: Champions of the science are targeting communities of color and other ma...

The Willowbrook Hepatitis Study is one of the best-known examples of unethical medical research, but the research has always had defenders. One of the more intriguing defenses continually used was that critics did not know the researchers on the study and, therefore, could not assess their ethics. This essay traces the appeal to the researchers’ characters across published research and archival sources from the 1960s through today. These appeals reflect the observation as old as Aristotle that one of the most (...) potent modes of persuasion is ethos or character. The specific types of character in these appeals develop out of the paternalistic nature of clinical and research practice in the mid-twentieth century. If the individual physician is the locus of medical judgment, then the physician’s character becomes a key concern for bioethics. These appeals still appear and have implications for bioethics in the present day. (shrink)