This book offers a multidisciplinary look at the much-debated concept of “personalized medicine”. By combining a humanistic and a scientific approach, the book builds up a multidimensional way to understand the limits and potentialities of a personalized approach in medicine and healthcare. The book reflects on personalized medicine and complex diseases, the relationship between personalized medicine and the new bio-technologies, personalized medicine and personalized nutrition, and on some ethical, political, (...) economic, and social implications of personalized medicine. This volume is of interest to researchers from several disciplines including philosophy, bio-medicine, and the social sciences. (shrink)

Proponents of the emerging field of P4 medicine argue that computational integration and analysis of patient-specific “big data” will revolutionize our health care systems, in particular primary care-based disease prevention. While many ambitions remain visionary, steps to personalize medicine are already taken via personalized genomics, mobile health technologies and pilot projects. An important aim of P4 medicine is to enable disease prevention among healthy persons through detection of risk factors. In this paper, we examine the current (...) status of P4 medicine in light of historical and current challenges to predictive and preventive medicine, including overdiagnosis and overtreatment. Moreover, we ask whether it is likely that in silico integration of patient-specific data will be able to better deal such challenges and to turn risk predictions into disease-preventive actions in a wider social context. Given the lack of evidence that P4 medicine can tip the balance between benefits and harms in preventive medicine, we raise concerns about the current promotion of P4 medicine as a solution to the current challenges in public health. (shrink)

In contrast to standardized guidelines, personalized medicine and person centered care are two notions that have recently developed and are aspiring for more individualized health care for each single patient. While having a similar drive toward individualized care, their sources are markedly different. While personalized medicine stems from a biomedical framework, person centered care originates from a caring perspective, and a wish for a more holistic view of patients. It is unclear to what extent these two (...) concepts can be combined or if they conflict at fundamental or pragmatic levels. This paper reviews existing literature in both medicine and related philosophy to analyze closer the meaning of the two notions, and to explore the extent to which they overlap or oppose each other, in theory or in practice, in particular regarding ethical assumptions and their respective practical implications. (shrink)

Proponents of the emerging field of P4 medicine argue that computational integration and analysis of patient-specific “big data” will revolutionize our health care systems, in particular primary care-based disease prevention. While many ambitions remain visionary, steps to personalize medicine are already taken via personalized genomics, mobile health technologies and pilot projects. An important aim of P4 medicine is to enable disease prevention among healthy persons through detection of risk factors. In this paper, we examine the current (...) status of P4 medicine in light of historical and current challenges to predictive and preventive medicine, including overdiagnosis and overtreatment. Moreover, we ask whether it is likely that in silico integration of patient-specific data will be able to better deal such challenges and to turn risk predictions into disease-preventive actions in a wider social context. Given the lack of evidence that P4 medicine can tip the balance between benefits and harms in preventive medicine, we raise concerns about the current promotion of P4 medicine as a solution to the current challenges in public health. (shrink)

The phrase "personalized medicine" has a built-in positive spin. Simple genetic tests can sometimes predict whether a particular individual will have a positive response to a particular drug or, alternatively, suffer costly and debilitating side effects. But little attention has been given to some challenging issues of justice raised by personalized medicine. How should we determine who would have a just claim to access particular treatments, especially very expensive ones? How effective do those treatments need to (...) be?If there were a thick, bright line separating minimal responders from maximal responders, then we could allocate these treatments in a fair and cost-effective way. But there is no bright line. The .. (shrink)

Systems medicine, which is based on computational modelling of biological systems, is emerging as an increasingly prominent part of the personalized medicine movement. It is often promoted as ‘P4 medicine’. In this article, we test promises made by some of its proponents that systems medicine will be able to develop a scientific, quantitative metric for wellness that will eliminate the purported vagueness, ambiguity, and incompleteness—that is, normativity—of previous health definitions. We do so by examining the (...) most concrete and relevant evidence for such a metric available: a patent that describes a systems medicine method for assessing health and disease. We find that although systems medicine is promoted as heralding an era of transformative scientific objectivity, its definition of health seems at present still normatively based. As such, we argue that it will be open to influence from various stakeholders and that its purported objectivity may conceal important scientific, philosophical, and political issues. We also argue that this is an example of a general trend within biomedicine to create overly hopeful visions and expectations for the future. (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 (...) class='Hi'>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)

The sequencing of the human genome and decreasing costs of sequencing technology have led to the notion of ‘personalized medicine’. This has been taken by some authors to indicate that personalized medicine will provide individualized treatments solely based on one’s DNA sequence. We argue this is overly optimistic and misconstrues the notion of personalization. Such interpretations fail to account for economic, policy and structural constraints on the delivery of healthcare. Furthermore, notions of individualization based on genomic (...) data potentially take us down the road of genetic reductionism obscuring the role of environmental factors in disease and ill health. We propose that one should see personalized medicine as a way of using personal genomic information to stratify individuals into subpopulations and suggest that personalized medicine be seen within a broader idea of personalized healthcare, reflecting healthcare that integrates personal genomic data into cultural, environmental and personal contexts. (shrink)

Personalized Medicine is an evolving and often missinterpreted concept and no agreement of personalization exist. We examined the PM discourse towards foucauldian archeological and genealogical analysis to understand the meaning of “personalization” in medicine. In the archaeological analysis, the historical evolution is characterized by the coexistence of two epistemologies: the holistic vision and the omic sciences. The genealogical analysis shows how these epistemologies may affect the meaning of “person” and, consequently, the ontology of patients. Additionally, substitutions/confusions of (...) the term PM are related to continuously evolving medical knowledge and new technologies; different etymological roots of “personalization” and “person”; and cultural differences. In conclusion, if the definition of “personalization” in medicine is not clear, patients might get wrong expectations about what is achievable for their health. Therefore, epistemological trends should not be separated as they drive same goals: providing accurate diagnosis and treatments based on large data to predict disease progression. (shrink)

This article explores the ways in which predictive information technologies are used in the field of personalized medicine and the relations between this use and how patients and disease are perceived. This is examined in a qualitative case study of a personalized cancer clinical trial, where oncologists made clinical decisions for each patient based on drug matchings and efficacy predictions produced by bioinformatic technologies and algorithms. I focus on personalized practice itself, as a postgenomic phenomenon, rather (...) than on epistemic, ethical and institutional critiques. Personalized medicine aims to process molecular, clinical, environmental and social data into individually tailored decisions. In this case, however, the engagement of clinicians with data and digital artefacts that processed multiple information sources resulted in treatment choices that were paradoxically both immutable and uncertain. In contrast to the situatedness of the body in postgenomics, this practice subverted the personalized medical approach while decontextualizing both cancer and patients. (shrink)

Recently, individualized or personalized medicine (PM) has become a buzz word in the academic as well as public debate surrounding health care. However, PM lacks a clear definition and is open to interpretation. This conceptual vagueness complicates public discourse on chances, risks and limits of PM. Furthermore, stakeholders might use it to further their respective interests and preferences. For these reasons it is important to have a shared understanding of PM. In this paper, we present a sufficiently precise (...) as well as adequate definition of PM with the potential of wide acceptance. (shrink)

When President Obama laid out his vision for the U.S. Precision Medicine Initiative in a 2016 Boston Globe op‐ed, he cautioned, “[I]t only works if we collect enough information first.” “Collecting information” is an apt way to describe the subject of both books reviewed here. Jenny Reardon's The Postgenomic Condition: Ethics, Justice, and Knowledge after the Genome traces the history of the Human Genome Project and efforts around the globe to obtain blood samples to extract not only genetic data (...) but also meaning from them. Barbara Prainsack's Personalized Medicine: Empowered Patients in the 21st Century? concerns the capture of digital, quantifiable, and computable information about nearly all aspects of people's lives in the pursuit of personalized medicine. Reardon and Prainsack critique scientists’ and corporations’ appeals to liberal democracy, justice, and empowerment to collect more and more information about people. They reveal the limitations and frequent superficiality of those appeals and remind us that person‐centric ethics rather than data‐centric research is needed to realize a more democratic, just, and empowered society. (shrink)

The genome of two completely unrelated individuals is quite similar apart from minor variations called single nucleotide polymorphisms which contribute to the uniqueness of each and every person. These single nucleotide polymorphisms are of great interest clinically as they are useful in figuring out the susceptibility of certain individuals to particular diseases and for recognizing varied responses to pharmacological interventions. This gives rise to the idea of ‘personalized medicine’ as an exciting new therapeutic science in this genomic era. (...) Personalized medicine suggests a unique treatment strategy based on an individual’s genetic make-up. Its key principles revolve around applied pharmaco-genomics, pharmaco-kinetics and pharmaco-proteomics. Herein, the ethical and legal aspects of personalized medicine in a new genomic era are briefly addressed. The ultimate goal is to comprehensively recognize all relevant forms of genetic variation in each individual and be able to interpret this information in a clinically meaningful manner within the ambit of ethical and legal considerations. The authors of this article firmly believe that personalized medicine has the potential to revolutionize the current landscape of medicine as it makes its way into clinical practice. (shrink)

In recent years, personalized medicine (PM) has become a highly regarded line of development in medicine. Yet, it is still a relatively new field. As a consequence, the discussion of its future developments, in particular of its ethical implications, in most cases can only be anticipative. Such anticipative discussions, however, pose several challenges. Nevertheless, they play a crucial role for shaping PM’s further developments. Therefore, it is vital to understand how the ethical discourse on PM is conducted, (...) i.e. on what – empirical and normative – assumptions ethical arguments are based regarding PM’s current and future developments. (shrink)

Die rasanten technischen Fortschritte in der Genomforschung ermöglichen heute schon die Sequenzierung des einzelnen menschlichen Genoms in wenigen Tagen und zu vertretbaren Kosten. In der Krebsforschung ermöglicht die genetische Sequenzanalyse, zunehmend die Defekte zu identifizieren, die für das Tumorwachstum bei jedem einzelnen Patienten verantwortlich sind. Auf dieser Basis können zielgerichteter Therapien entwickelt werden. Diese Forschung wirft jedoch auch neue, ethische Fragen auf. Diesen normativen Fragen widmet sich in Heidelberg das interdisziplinäre EURAT Projekt mit dem Ziel, ethisch und rechtlich informierte Lösungen (...) zu formulieren und zu etablieren.Dieser Beitrag gibt zum einen einen Überblick über die ethischen und klinischen Fragen, die für den Aufklärungs- und Einwilligungsprozess in die biobankbasierte Genomforschung relevant sind. Zum anderen wird als organisationsethische Antwort auf die Frage, wie eine Forschungsinstitution den verantwortungsvollen Umgang mit genetischen Informationen in Biobanken über die verschiedenen Berufsgruppen und beteiligten Institute hinweg sichern kann, ein Verhaltenskodex vorgestellt. Eine gut begründete, informierte Zustimmung und ein Verhaltenskodex sind beides Elemente einer „Best Practice Leitlinie“ und sollen den verantwortlichen Umgang aller beteiligten Mitarbeiter mit sensiblen genetischen Daten prägen. (shrink)

Over the last decade, personalized medicine has become a buzz word, which covers a broad spectrum of meanings and generates many different opinions. The purpose of this article is to achieve a better understanding of the reasons why personalized medicine gives rise to such conflicting opinions. We show that a major issue of personalized medicine is the gap existing between its claims and its reality. We then present and analyze different possible reasons for this (...) gap. We propose an hypothesis inspired by the Windelband’s distinction between nomothetic and idiographic methodology. We argue that the fuzzy situation of personalized medicine results from a mix between idiographic claims and nomothetic methodological procedures. Hence we suggest that the current quandary about personalized medicine cannot be solved without getting involved in a discussion about the complex epistemological and methodological status of medicine. To conclude, we show that the Gadamer’s view of medicine as a dialogical process can be fruitfully used and reveals that personalization is not a theoretical task, but a practical one, which takes place within the clinical encounter. (shrink)

Die Entwicklung einer „personalisierten Medizin“ ist zurzeit in aller Munde. Insbesondere die personalisierte Arzneimitteltherapie gewinnt infolge der pharmakologischen und molekulargenetischen Entwicklungen immer mehr an Bedeutung. Dies macht es erforderlich, die Auswirkungen der personalisierten Arzneimitteltherapie auf die gesetzliche Krankenversicherung (GKV) und die Patientenversorgung zu untersuchen. In diesem Zusammenhang stellt sich die Frage nach einer „Orphanisierung“: Könnten Arzneimittel der personalisierten Medizin regelmäßig als Orphan Drugs, also als Arzneimittel für seltene Leiden, ausgewiesen werden, würde für sie nach dem Arzneimittelneuordnungsgesetz (AMNOG) grundsätzlich kein Nachweis (...) des Zusatznutzens im Rahmen der vom Gemeinsamen Bundesausschuss (GBA) vorzunehmenden frühen Nutzenbewertung erforderlich werden. Entscheidend für die Ausweisung des Arzneimittels als Orphan Drug ist unter anderem die Prävalenzrate der Patientengruppe, deren Erkrankung mit dem Arzneimittel behandelt werden soll. In diesem Zusammenhang kommt der Stratifizierung von Patientengruppen im Rahmen der personalisierten Arzneimitteltherapie eine besondere Bedeutung zu. Eine solche „Orphanisierung“ hätte für die GKV wegen der mangelnden Kenntnis von dem Zusatznutzen des Arzneimittels insbesondere preisrechtliche Konsequenzen; für die Patienten sind die Folgen durchaus differenzierter zu betrachten. (shrink)

BackgroundThe overwhelming scarcity of organs within renal transplantation forces researchers and transplantation teams to seek new ways to increase efficacy. One of the possibilities is the use of personalized medicine, an approach based on quantifiable and scientific factors that determine the global immunological risk of rejection for each patient. Although this approach can improve the efficacy of transplantations, it also poses a number of ethical questions.MethodsThe qualitative research involved 22 semi-structured interviews with nephrologists involved in renal transplantation, with (...) the goal of determining the professionals' views about calculating the global immunological risk and the attendant ethical issues.ResultsThe results demonstrate a general acceptance of this approach amongst the participants in the study. Knowledge of each patient's immunological risk could improve treatment and the post-graft follow-up. On the other hand, the possibility that patients might be excluded from transplantation poses a significant ethical issue. This approach is not seen as something entirely new, given the fact that medicine is increasingly scientific and evidence-based. Although renal transplantation incorporates scientific data, these physicians believe that there should always be a place for clinical judgment and the physician-patient relationship.ConclusionsThe participants see the benefits of including the calculation of the global immunological risk within transplantation. Such data, being more precise and rigorous, could be of help in their clinical work. However, in spite of the use of such scientific data, a place must be retained for the clinical judgment that allows a physician to make decisions based on medical data, professional expertise and knowledge of the patient. To act in the best interests of the patient is key to whether the calculation of the global immunological risk is employed. (shrink)

Personalized medicine—the customization of medical treatment to an individual's genetic profile—aims to both improve outcomes and control costs. But recent news, including scandals involving direct‐to‐consumer genetic tests and questions about targeted cancer therapies, has exposed many ethical hurdles. They are explored here by ethicists, a patient, a medical student, and a consumer advocate.

The patient wished to receive an experimental drug that she was instrumental in developing. After her diagnosis, she had investigated treatments that might help her condition and discovered that a specific compound could be beneficial. To further the development of this potential drug, she obtained preclinical data, founded a company, and sought investment from venture capitalists. The company was about to begin phase I testing, but the clinical trial had not yet opened. In addition, she would not have been a (...) candidate for the study, as it excluded patients with advanced disease. To be able to administer this drug to her, the patient's team of oncologists was in the process of drafting an individual patient investigational new drug application, including the protocol for the drug's delivery, to the Food and Drug Administration. The company developing the drug had preliminarily agreed to provide it. This protocol was also under review by the institutional review board of the university, and the ethics committee was consulted to determine whether she should receive the drug. (shrink)

BackgroundOver the past decade, the exponential growth of the literature devoted to personalized medicine has been paralleled by an ever louder chorus of epistemic and ethical criticisms. Their differences notwithstanding, both advocates and critics share an outdated philosophical understanding of the concept of personhood and hence tend to assume too simplistic an understanding of personalization in health care.MethodsIn this article, we question this philosophical understanding of personhood and personalization, as these concepts shape the field of personalized (...) class='Hi'>medicine. We establish a dialogue with phenomenology and hermeneutics (especially with E. Husserl, M. Merleau-Ponty and P. Ricoeur) in order to achieve a more sophisticated understanding of the meaning of these concepts We particularly focus on the relationship between personal subjectivity and objective data.ResultsWe first explore the gap between the ideal of personalized healthcare and the reality of today’s personalized medicine. We show that the nearly exclusive focus of personalized medicine on the objective part of personhood leads to a flawed ethical debate that needs to be reframed. Second, we seek to contribute to this reframing by drawing on the phenomenological-hermeneutical movement in philosophy. Third, we show that these admittedly theoretical analyses open up new conceptual possibilities to tackle the very practical ethical challenges that personalized medicine faces.ConclusionFinally, we propose a reversal: if personalization is a continuous process by which the person reappropriates all manner of objective data, giving them meaning and thereby shaping his or her own way of being human, then personalized medicine, rather than being personalized itself, can facilitate personalization of those it serves through the data it provides. (shrink)

Personalized medicine plays an important role in the development of current medicine. Among the numerous statements regarding the future of personalized medicine, some can be found that accord medicine a new scientific status. Medicine will be transformed from an art to a science due to personalized medicine. This prognosis is supported by references to models of historical developments. The article examines what is meant by this prognosis, what consequences it entails, and (...) how feasible it is. It refers to the long tradition of epistemological thinking in medicine and the use of historical models for the development of medicine. The possible answers to the question “art or science” are systematized with respect to the core question about the relationship between knowledge and action. The prediction for medicine to develop from an ‘empirical healing art’ to a ‘rational, molecular science’ is nonsensical from an epistemological point of view. The historical models employed to substantiate the development of personalized medicine are questionable. (shrink)

It is argued that the ethical questions and challenges raised by the project of personalizing medicine are not sufficiently addressed without considering the possible effects thereof on our system of healthcare. I argue that the framing of ethical issues in light of the main principles of bioethics, such as autonomy, welfare and even justice, tends to be too narrow and the larger social implications thus tend to be neglected. Among the possible unintended consequences of the project to increase personal (...) responsibility for health is a reduced emphasis on it’s social determinants, for which we are jointly responsible.This presents important challenges for bioethics, and calls in turn for closer attention to be paid to biopolitics and the social context of bioethical discourse. The conclusion is that the benefits or damage that might result from personalizing medicine will depend no less upon political and policy decisions than on pharmacogenomic developments. (shrink)

A silent revolution has occurred in the most highly industrialized countries. This is the utilization and acceptance of various healing practices (which for convenience has often been labeled as “alternative medicine,” a.k.a. “whole person healing”) by an enormous fraction of the population. Moreover, this population cohort is much wealthier and better educated than the average citizen. It is no longer possible for this generation in the Western world to ignore or denigrate the medicine and healing practices used by (...) hundreds of millions in other cultures. What is obviously needed is a retreat from the innate skeptical reaction of much of the stance of western medicine, the development of a mutual respect for other cultures and their achievements, and a genuinely open, scientific and wholistic approach to the issues, especially in this context, to other practices of whole person healing. (shrink)

Over the last decade, humans have produced each year as much data as were produced throughout the entire history of humankind. These data, in quantities that exceed current analytical capabilities, have been described as “the new oil,” an incomparable source of value. This is true for healthcare, as well. Conducting analyses of large, diverse, medical datasets promises the detection of previously unnoticed clinical correlations and new diagnostic or even therapeutic possibilities. However, using Big Data poses several problems, especially in terms (...) of representing the uniqueness of each patient and expressing the differences between individuals, primarily gender and sex differences. The first two sections of the paper provide a definition of “Big Data” and illustrate the uses of Big Data in medicine. Subsequently, the paper explores the struggle to represent exhaustively the uniqueness of the patient through Big Data is highlighted prior to a deeper investigation of the digital representation of gender in personalized medicine. The final part of the paper put forward a series of recommendations for better approaching the complexity of gender in medical and clinical research involving Big Data for the creation or enhancement of personalized medicine services. (shrink)

Over the last decade, humans have produced each year as much data as were produced throughout the entire history of humankind. These data, in quantities that exceed current analytical capabilities, have been described as “the new oil,” an incomparable source of value. This is true for healthcare, as well. Conducting analyses of large, diverse, medical datasets promises the detection of previously unnoticed clinical correlations and new diagnostic or even therapeutic possibilities. However, using Big Data poses several problems, especially in terms (...) of representing the uniqueness of each patient and expressing the differences between individuals, primarily gender and sex differences. The first two sections of the paper provide a definition of “Big Data” and illustrate the uses of Big Data in medicine. Subsequently, the paper explores the struggle to represent exhaustively the uniqueness of the patient through Big Data is highlighted prior to a deeper investigation of the digital representation of gender in personalized medicine. The final part of the paper put forward a series of recommendations for better approaching the complexity of gender in medical and clinical research involving Big Data for the creation or enhancement of personalized medicine services. (shrink)

A woman with breast cancer takes a genetic test that predicts how active the tumors are and whether the benefits of chemotherapy outweigh the risks of side effects.A newlywed couple sends saliva samples to a start-up company to test for carrier genes for over one hundred inherited diseases, many of which are incurable or lethal.A heart transplant patient takes a blood test that detects patterns in gene expression to check for signs of rejection, making an invasive biopsy unnecessary.Each of the (...) tests described above either exists or is under development. Now, ten years after the release of a working draft of the human genome, major changes have made their way into medical practice, the marketplace, research, and .. (shrink)

Personalized medicine aims to tailor disease prevention, diagnosis, and treatment to individuals on the basis of their genes, lifestyle and environments. Patient and interest organizations may potentially play an important role in the realization of PM. This paper investigates the views and perspectives on PM of a variety of PIOs. Semi-structured telephone interviews were conducted among leading representatives of 13 PIOs located in Europe and North-America. The data collected were analysed using a conventional content analysis approach. The PIO (...) representatives supported the realization of PM but feared that many financial, structural and organizational challenges may delay its realization. They encouraged strategies to modernize drug licencing mechanisms, develop research and data sharing infrastructures, and educate patients and health care professionals in PM. Notably, they emphasized the importance of developing PM in an equitable way and taking into consideration the patients’ needs, values and personal situation. Despite varying levels of awareness regarding PM, the PIO representatives expressed willingness to engage in the PM agenda and recommended that PIOs work closely with policy-makers to design PM in a way that truly addresses the needs and concerns of patients. PIOs have the potential to become central drivers of the PM agenda. Collaborations should be further developed between PIOs, researchers, drug developers and health care authorities. (shrink)

This article challenges a key tacit assumption underpinning legal and ethical instruments in health care, namely, that people are ideally bounded, independent, and often also strategically rational individuals. Such an understanding of personhood has been criticized within feminist and other critical scholarship as being unfit to capture the deeply relational nature of human beings. In the field of medicine, however, it also causes tangible problems. I propose that a solidarity-based perspective entails a relational approach and as such helps to (...) formulate new solutions to complex ethical and regulatory questions, ranging from caring for people at the end of their lives to improving policies for organ donation and better governance of health data. It also underscores the importance of universal health care. Although a solidarity-based perspective does not require health to be seen as an individually enforceable right, it does influence our understanding of individual rights: it draws attention to how their meaning is shaped by shared social practices. I conclude by arguing that, in light of current pressures for medicine to become more personalized, using a relational understanding of personhood to shape policies and practices is a much needed endeavor. (shrink)

Francis Collins had an impressive track record as a gene hunter (cystic fibrosis, neurofibromatosis, Huntington’s disease) when he was appointed Director of the Human Genome Project (HGP) in 1993. In June 2000, together with Craig Venter and President Bill Clinton, he presented the draft version of the human genome sequence to a worldwide audience during a famous press conference. And in 2009, President Barack Obama nominated him as director of the National Institutes of Health (NIH), the largest Tfunding agency for (...) biomedical research in the world. s The In 2006, Collins published his book The Language of God,3 an autobiographical account of the HGP and its scientific, historical, and societal significance, with special attention paid to the impact of the human sequence on the way we see our world and ourselves.4 Now, by way of a sequel, he has written The Language of Life. Wherea Language of God focused on the genome sequence of mankind in general, and on the HGP as a “revolution” in biomedicine, the new book, as indicated by its subtitle, is oriented towards “the revolution in personalized medicine”, the impact of the genomics revolution on the personal lives of individuals. Before subjecting Collins’ book to a closer reading, I first of all would like to explain how I will read it and from what perspective. Why is genomics in general, and the HGP and its aftermath in particular, a subject of interest to a philosopher like me? Why did I become interested in assessing the HGP and in studying the work and views of some of its key contributors? (shrink)

The rise of personalised medicine can be seen as an extension of individualism and as a threat to the common good.

Since the completion of the Human Genome Project, personalized medicine has become one of the most influential visions guiding medical research. This paper focuses on the politics of personalized medicine in psychiatry as a medical specialty, which has rarely been investigated by social science scholars. I examine how this vision is being sustained and even increasingly institutionalized within the mental health arena, even though related research has repeatedly failed. Based on a document analysis and expert interviews, (...) this article identifies discursive strategies that help to sustain this vision and its promises: “complexity talk,” “extension,” and “boundary work.” These practices secure its plausibility, protect it from criticism, and maintain stakeholder support. (shrink)

This paper proposes an ethical reflection on personalized medicine and more precisely on the diagnostic technology underlying it, including nanochips. Our approach is inspired by a combination of two philosophical frames of reference: first, John Dewey’s distinction between intuitive valuation and reflexive evaluation, second, John Rawls’ reflective equilibrium. We aim at what we call a ‘reflexive equilibrium’, a mutual adjustment between on the one hand, the intuitive beliefs scientists have about the ethics of the technologies they work on (...) (‘valuations’ in Dewey’s vocabulary) and, on the other hand, the reflexive ethical assessment of these technologies (‘evaluations’). Our goal, in this paper, is to provide the first step of this process through a philosophical analysis of some valuations on individualized medicine. In order to apprehend the ethical values shaping the development of biochips, we present and analyze qualitative interviews with scientists involved in the conception and the development of biochips involving nanotechnologies. We then propose a critical assessment of the role of ethics in these scientific practices. Last, we suggest two distinct and complementary ways to solve some of the issues brought to light by the interviews, without aiming at any dogmatic or “ready-made” answer. The first of these perspectives gives a central role to the capability individuals could achieve through personalized medicine; the second approach analyses the ethical disruptions entailed by personalized medicine with a special focus on care. (shrink)

The price of sequencing all the DNA in a person's genome is falling so fast that, according to one biotech leader, soon it won't cost much more than flushing a toilet. Getting all that genomic data at an ever‐lower cost excites the imaginations not only of biotech investors and researchers but also of the President and many members of Congress. They envision the data ushering in an age of “personalized medicine,” where medical care is tailored to persons’ genomes. (...) The new name “precision medicine” should not distract us from the fact that the genomic information it depends on is more complex, uncertain, and ambiguous than anyone had hoped, nor should it distract us from an important ethical point. Unfortunately, several developments of the last fifteen years suggest that, in our excitement about the technological capacity to gather genomic data at an ever lower cost, we are drifting away from what has long been a basic ethical commitment: to offer persons a process that enables them to provide informed consent before they or anyone else accesses their genetic information. (shrink)

Modern medicine, based on enormous progress in science and its applications, has lost dimensions of individualized treatment and compassion which traditionally were an essential part of physician’s service over the millennia in Eastern and Western cultures. Today diseases and symptoms, rather than persons, are treated, based on objective quality norms and inflexible payment schemes rather than the rather than persons. We present a checklist model for personalized health care, which has been successful in teaching and practice to reclaim (...) lost territory in treating patients as persons. (shrink)

Scientists and clinicians are starting to translate genomic discoveries from research labs to the clinical setting. In the process, big data genomic technologies are both a risk to individual privacy and a benefit to personalized medicine. There is an opportunity to address the social and ethical demands of various stakeholders and shape the adoption of diagnostic genome technologies. We discuss ethical and practical issues associated with the networking of genomics by comparing how the European Union and North America (...) understand and practice notions of privacy and consent in research. An overview of international policy suggests the embedding of genomics within digital networks and the Internet creates conditions that challenge the management of privacy and consent in the age of big data. The risks of re-identification, informational harms, and data security vulnerabilities are issues that need to be better addressed in the clinical setting to reconcile the unpredictable pathway of research and practice in the networked information society. (shrink)

“Democratization” has recently become a popular trope in Western public discourses on medicine, where it refers to patient participation in the gathering and distribution of health-related data using various digital technologies, in order to improve healthcare technically and socially. We critically analyze the usage of the term from the perspective of the “politics of buzzwords.” Our claim is that the phrase works primarily to publicly justify the dramatic increase in the application of information and data technologies in healthcare and (...) therefore fosters the corresponding industry. As a buzzword, “democratizing healthcare” is characterized by vagueness, which is why it receives meaning only through a word collective—a group of words that provide it with a context and are often used together with it. We examine key terms associated with “democratization” in the healthcare discourse—participation, empowerment, and personalized medicine—and show that the buzzword receives rhetorical power through the ambiguous reference to these concepts. As a consequence, the idea of “democracy” becomes diluted into meaning merely “access to,” and “healthcare” is reduced to the notion of a preventive, nonacute, monitored form of medical care. (shrink)

Fundamental science is rapidly approaching its asymptote because it has been so successful. We already have a “theory of everything, that matters to the human race.” The laws of chemistry and physics cannot be replaced. Although most scientists react to this as though it were religious blasphemy, the proof is in our record. Since the discovery of quantum mechanics, no fundamental science of any significance to other sciences has appeared—in 70 years and with, perhaps, expenditures of$ 0.5 trillion. In contrast, (...) engineering and applied sciences have taken over the fundamental role, insofar as it is their advances from electric lights to cars, to planes, to computers that affect all science and all citizens. The reductionist model of approaching reality has been discredited. The most visible arena for the victory of the new integrationist approaches is in the reemergence of integrative medicine, which includes high-tech medicine in the larger body-mind-spirit, or whole person approach. (shrink)

Since the late 1980s, the human genetics and genomics research community has been promising to usher in a “new paradigm for health care”—one that uses molecular profiling to identify human genetic variants implicated in multifactorial health risks. After the completion of the Human Genome Project in 2003, a wide range of stakeholders became committed to this “paradigm shift,” creating a confluence of investment, advocacy, and enthusiasm that bears all the marks of a “scientific/intellectual social movement” within biomedicine. Proponents of this (...) movement usually offer four ways in which their approach to medical diagnosis and health care improves upon current practices, arguing that it is more “personalized,” “predictive,” “preventive,” and “participatory” than the medical status quo. Initially, it was personalization that seemed to best sum up the movement's appeal. By 2012, however, powerful opinion leaders were abandoning “personalized medicine” in favor of a new label: “precision medicine.” The new label received a decisive seal of approval when, in January 2015, President Obama unveiled plans for a national “precision medicine initiative” to promote the development and use of genomic tools in health care. (shrink)

Book reviewed in this article: Philosophy in Medicine: Conceptual and Ethical Problems in Medicine and Psychiatry. By Charles M. Culver and Bernard Gert. Psychiatric Ethics. Edited by Sidney Block and Paul Chodoff. Man, Mind, and Morality: The Ethics of Behavior Control. By Ruth Macklin.

Book reviewed in this article: Philosophy in Medicine: Conceptual and Ethical Problems in Medicine and Psychiatry. By Charles M. Culver and Bernard Gert. Psychiatric Ethics. Edited by Sidney Block and Paul Chodoff. Man, Mind, and Morality: The Ethics of Behavior Control. By Ruth Macklin.

A decade after the completion of the Human Genome Project, the widespread appeal of personalized genomic medicine's vision and potential virtues for health care remains compelling. Advocates argue that our current medical regime “is in crisis as it is expensive, reactive, inefficient, and focused largely on one size fits all treatments for events of late stage disease.” What is revolutionary about this kind of medicine, its advocates maintain, is that it promises to resolve that crisis by simultaneously (...) increasing the ability to be “personalized,” “predictive,” “preventive,” and “participatory.” Some call personalized genomic medicine “P4 Medicine,” inscribing these cardinal virtues into the movement's name. All of these putative virtues have interesting implications for the future of health care. In this essay, we are especially interested in the claims that personalized medicine will lead to a more “participatory” or “patient‐centered” approach to health care, in which patients are “empowered” to take more personal control over their care. The rhetoric of patient empowerment is nothing new in health care, but personalized medicine is an interesting case study because it portrays empowerment as one of its key virtues and as a mechanism for fixing the health care “crisis.”. (shrink)