BACKGROUND:In order to optimally integrate the use of high-throughput sequencing (HTS) as a tool in clinical diagnostics of likely monogenic disorders, we have created a multidisciplinary "Genome Clinic Task Force" at the University Hospitals of Geneva, which is composed of clinical and molecular geneticists, bioinformaticians, technicians, bioethicists, and a coordinator.METHODS AND RESULTS:We have implemented whole exome sequencing (WES) with subsequent targeted bioinformatics analysis of gene lists for specific disorders. Clinical cases of heterogeneous Mendelian disorders that could potentially benefit from HTS are presented and discussed during the sessions of the task force. Debate concerning the interpretation of identified variants and the content of the final report constitutes a major part of the task force's work. Furthermore, issues related to bioethics, genetic counseling, quality control, and reimbursement are also addressed.CONCLUSIONS:This multidisciplinary task force has enabled us to create a platform for regular exchanges between all involved experts in order to deal with the multiple complex issues related to HTS in clinical practice and to continuously improve the diagnostic use of HTS. In addition, this task force was instrumental to formally approve the reimbursement of HTS for molecular diagnosis of Mendelian disorders in Switzerland.

There is increasing support for embryonic stem (ES) cell research on both sides of the Atlantic. In the United States, the outcome is more funding from non-federal sources, despite the current administration's opposing views. In Europe, a similar pragmatic turn is in the making, but the future is still uncertain. Acceptance of ES cells is mitigated by the uncritical belief that their use is ethically more suspect than is the case for adult cells.

Que dire sur la caisse unique ? Une difficulte deja souvent soulevee est le peu de precision que peut avoir une initiative constitutionnelle. On va donc devoir se prononcer sur des principes, davantage que sur du concret. Aucune projection ne changera cette donne. Mais ca ne signifie pas qu'on ne peut rien dire ! Dans un debat houleux qui oscille sans crier gare entre la bataille ideologique sanglante et le pragmatisme le plus chimiquement pur, peut-etre le plus important est-il de rappeler quelques parametres et d'identifier les questions dont il s'agit reellement.

As elsewhere, the ethical debate on embryonic stem cell research in Central Europe, especially Germany and Switzerland, involves controversy over the status of the human embryo. There is a distinctive Kantian flavor to the standard arguments however, and we show how they often embody a set of misunderstandings and argumentative shortcuts we term"embryological Kantianism.We also undertake a broader analysis of three arguments typically presented in this debate, especially in official position papers, namely the identity, continuity, and potentiality arguments. It turns out that these arguments do not support the strong, quasi-personal status accorded to the embryos in these official opinions.

La transplantation pulmonaire pose les memes problemes d'ethique que les transplantations d'autres organes issus de donneurs vivants, mais avec encore plus d'acuite, puisque deux donneurs sont necessaires pour qu'un receveur puisse etre traite. Pour tracer les grandes lignes d'un cadre ethique ou cette procedure pourrait etre acceptable, il convient de la situer precisement dans l'ensemble des conditions normatives qui regissent le don d'organe en general.

It is commonplace today to deplore the dissatisfaction of patients with the physician-patient relationship. Furthermore, historical investigation shows that this problem is not really new. We investigated an important source of patients' views in the 18th century, namely the letters of patients received by the famous Swiss physician, Samuel Tissot, and noted remarkably similar feelings of frustration. Yet the medical paradigms of today and of Tissot's times are considerably different. We propose that the persisting problems in the physician-patient relationship are due to a basic dissonance between the patient's ordinary modes of perception and the systematic way of perceiving reality characteristic of the physician. In addition, they reflect the unavoidable chasm between the ultimately private and singular nature of the illness experience, and the general and anonymous stance of medical theory. This chasm is therefore a permanent feature of the patient-physician relationship, predating the advent of scientific medicine, even if the latter reinforced it. In line with the current medical humanities movement, we believe that the engagement of physicians and medical students with literature and the arts helps them explore, and to some extent overcome, the existential divide between the patient's experiential self knowledge and the systematic, impersonal knowledge that plays a central role in medicine. We suggest a few examples of contemporary fiction that may be relevant and useful in this respect.

It is commonplace today to deplore the dissatisfaction of patients with the physician-patient relationship. Furthermore, historical investigation shows that this problem is not really new. We investigated an important source of patients’ views in the 18th century, namely the letters of patients received by the famous Swiss physician, Samuel Tissot, and noted remarkably similar feelings of frustration. Yet the medical paradigms of today and of Tissot’s times are considerably different. We propose that the persisting problems in the physician-patient relationship are due to a basic dissonance between the patient’s ordinary modes of perception and the systematic way of perceiving reality characteristic of the physician. In addition, they reflect the unavoidable chasm between the ultimately private and singular nature of the illness experience, and the general and anonymous stance of medical theory. This chasm is therefore a permanent feature of the patient-physician relationship, predating the advent of scientific medicine, even if the latter reinforced it. In line with the current medical humanities movement, we believe that the engagement of physicians and medical students with literature and the arts helps them explore, and to some extent overcome, the existential divide between the patient’s experiential self knowledge and the systematic, impersonal knowledge that plays a central role in medicine. We suggest a few examples of contemporary fiction that may be relevant and useful in this respect.

The availability of the complete sequence of the human genome is forcing us to think about what it is that makes us human. In this Science and Society Essay, Alex Mauron examines the traditional notions of the soul expounded by Aristotle and medieval scholastics such as Thomas Aquinas and asks if the genome fits these definitions.

The label of molecular medicine stands for a variety of scientific, diagnostic and therapeutic developments. While these aspects of modern medicine have relatively little in common in terms of the ethical tissues they raise, they change the overall philosophy of medicine in characteristic ways. These changes are analysed in terms of three somewhat non-traditional dimensions of medical practice: the engineering's deal, the predictive dimension, and the role of the doctor as personal health advisor.