[Prevention of genetic diseases : the return of the family practitioner ?] / Prévention des maladies génétiques. Le retour du médecin de famille ?

BACKGROUND: Information to kin is one of the major ethical problems of the new genetics. In France, the revised bioethics law in 2011 created the possibility for patients to authorize professionals, under certain conditions, to directly contact their relatives at risk. Beyond this, other actors, such as GPs, could however play a role in this process. METHODS: Our article is based on an ethnographic-type sociological study by observations and semi-structured interviews with patients (n=59) and genetic professionals (n=16) that took place from 2014 to 2016 in three genetic hospital wards in France and Canada. It focuses particularly on genetic predispositions to breast and ovarian cancers as well as genetic hemochromatosis. RESULTS: Because of its position as a primary care specialist, the general practitioner can play a decisive role in the process of informing relatives about genetic disorders. Upstream of the genetic test, the generalist, thanks to his knowledge of the family context of his patients, can play a referral role towards a specialized consultation. Downstream, it can also ensure a more effective follow-up of the information procedures undertaken by its patients thanks to the medical follow-up that it carries out. CONCLUSION: The data collected during our study highlight the unprecedented place that could be that of the general practitioner in the field of prevention in genetics. At the articulation between primary care and highly specialized care, it is the figure of the "family" doctor who seems to be called here to be renewed by genetics.

[Breast cancer screening program in France: for optimization of the information]. / Dépistage organisé du cancer du sein en France : pour une optimisation de l'information.

BACKGROUND: Based on international and national recommendations, organized breast cancer screening in France raises questions of medical ethics built around the key concepts of individual autonomy and public health policy. Because of the evolving knowledge, professionals and institutions involved in the program must review the ethical values associated with this medical practice. METHODS: The ethical aspects of organized breast cancer screening were studied. In response to newly acquired knowledge highlighted by a review of texts governing this practice in France, proposals for changes resulting from reflections of a working group coordinated by the National Cancer Institute are presented. RESULTS: Ethical issues raised by screening must find expression in the general principles of the program's organization: acceptability of screening, efficiency, adverse effects, equity of access, free care…, but also at different stages of the procedure: information delivery, first and second invitations, refusal of further diagnostic investigation… CONCLUSION: A better match between breast cancer screening and recently developed knowledge requires optimal information delivery to women targeted by the program as well as a stronger role for the referring healthcare professional.

[Collections of human biological resources for research purposes: from regulations to the need of a guide of good collection practices]. / Les collections de ressources biologiques humaines pour la recherche : de la réglementation à la mise en place d'un guide de bonnes pratiques du collectionneur.

PURPOSE: In France, collections of human biological resources are regulated by the "Bioethics Law", currently in revision. Hence, we analyse the regulatory and ethical issues of these practices in the context of scientific research. The ultimate aim of such collections is to improve biological and medical knowledge. CURRENT KNOWLEDGE AND KEY POINTS: We think that the French regulatory system is quite complicated and non-explicit for "collection holders". The multiplicity of legal texts concerning this activity has made their application difficult, especially in the absence of application decrees. The project amending the actual law has clarified the legal status of collections but it did not shed light on the status of human body detached parts. Furthermore, the text is still very far from the international bioethical recommendations, and does not reflect the actual collection's implementation. FUTURE PROSPECTS AND PROJECTS: The establishment of a guideline of Good Collection Practices, based on clear principles, should help to simplify the situation, especially when it is imbedded in the regulation and linked to control procedures. It would allow a balance between collective interests and the protection of individuals, taking into account of the international highly competitive scientific and economical constraints. The major issue is to preserve and to perpetuate the existing and future collections because of their precious value as an important tool for biomedical knowledge. The efficiency of a regulation depends on its legibility and accessibility, two requirements that seem to determine the acceptance of the regulatory tool and its application allowing subsequently to reach fairness in proceedings.

Bio-libraries and DNA storage: assessment of patient perception of information.

BACKGROUND: Since the creation of places where DNA is stored, a number of questions appear about protecting the individual, confidentiality and the validity of the proposed consent to storage. This study, originating in France, analyzes and assesses the impact of the information given by the clinician to the patient regarding having his DNA stored. How does the patient receive the information? What is left of it? Is he informed enough to sign a "well-informed" consent? METHODS: A questionnaire issued to 170 patients in the same department was used to assess: (1) their knowledge of genetics, (2) their knowledge of DNA storage, (3) their perception of the consent. FINDINGS: A third of the patients answered, 20% of whom understood the objectives of a genetic test. None of the patients contacted was aware that he had samples stored in a DNA bank, that genetic analyses had been undertaken or remembered that he had signed a consent (which indeed exists). INTERPRETATION: The idea of a "well-informed" consent belongs to the criteria defining the validity of a cure and research agreement. Yet, its validity is doubted as soon as the information it implies is not understandable by the patients. Indeed, can the individual be considered autonomous, in the philosophical sense, in a well-informed decision making if the information given to the patient has not been well understood?

[Development of bioethics. Analysis of practices in 20 hospital departments]. / Gestion des biothèques. Analyse des pratiques au sein de 20 services hospitaliers.

OBJECTIVE: In order to analyze the constitution and management of DNA banks and the limitations on procedures currently used in France, we conducted a study in a sample of French hospital units. A DNA bank was defined as any facility where individual samples of DNA, irrespective of the form, are stored for ongoing or future gene studies. The aim of this work was to focus attention on the need for in-depth thought on the ethical issues involved in storing and using DNA as part of everyday clinical practice and research and to provide elements for a debate on the interest and limitations of the French bioethics laws whose revision is currently being considered. METHODS: A questionnaire was sent to the heads of departments in two university hospitals. Five areas were retained for evaluation: the nature and degree of DNA storage activities, procedures followed for reporting the DNA bank, procedures used to protect confidentiality, information given to patients and procedures used for informed consent, and finally, internal rules governing the bank's operation. The answers to the questionnaires were analyzed anonymously. RESULTS: Among 20 hospital units collecting DNA samples, 70% also stored other samples (DNA, blood, tissue, cell lines) including a large proportion of tissue samples. These samples were collected for purposes of fundamental research and clinical practice. The number of samples stored was quite variable, ranging from a few dozen samples to more than 40,000. Only 55% of the units had reported the facility to a control body, in compliance with current law. Seventy percent maintained computerized data bases but only 50% used an anonymous code. Seventy-five percent obtained written consent but patients were not always informed of the site of the storage or the transfer of their DNA. In addition, the validity of the consent over time, the duration of storage and the types of studies that could be conducted on the DNA were poorly detailed. Internal rules governing the bank's activities were not implemented by most of the units (65%). CONCLUSION: The responses to our questionnaire survey show that there is currently a gap between everyday practice and regulatory procedures concerning DNA banks in France. Further analysis of current practices would appear to be necessary so professionals could become more aware of the human and social issues involved with the use of DNA banks. These data on everyday practices should be made available to health care workers, public officials and law makers in order to promote ethical practices that, as has been observed, are not dictated solely by legislation which often lags behind everyday activities. All those involved in the management of DNA banks must be aware of their responsibilities in protecting patients' rights within the framework of a system based on information, consent, and over-the-board trustworthiness regularly submitted to short and long term assessments. A correct response to ethical issues is the only means of developing a real process of social interaction which cannot be achieved by revision of the bioethics laws alone.

[Management of DNA banks: ethical concerns]. / Gestion des biothèques: analyse des enjeux éthiques.

With the creation of DNA banks, short and long-term studies can be conducted on the DNA of many individuals using stored cells and tissues. These studies allow an analysis of the pathophysiological impact of genetics and help define individual markers predictive of risk. Genome analysis is thus an important advance in medical science, providing essential information for establishing appropriate measures to slow disease development, limit severity or improve safe recovery. The use of genetic results may however have an adverse effect in certain situations if the genetic information collected were deviated from its purely medical purpose under the influence of social, occupational or economic factors. The aim of our study was to analyse the ethical challenges linked to the implementation of DNA banks in France, particularly to see how to maintain the concept of individual protection in biomedical research within the patient-physician relationship in the current context of legal and administrative regulations in France. In this study, we discuss a set of criteria which should be systematically evaluated in information collection and consent procedures prior to blood or tissue procurement for DNA bank purposes.

[Traumatic aorto-right ventricular fistula. Apropos of a case]. / Fistule aorto-ventriculaire droite traumatique. A propos d'une observation.

The authors report the case of a 19 year old young man with an aorto-right ventricular fistula caused by a stab wound. The diagnosis was not made initially during surgery to control haemorrhage (left hemothorax due to a damaged internal mammary artery). However, three weeks later, a continuous murmur was detected and the diagnosis established by echocardiography and cardiac catheterisation. The lesions were repaired by open heart surgery under cardiopulmonary bypass. The authors describe the main features of this condition based on their own experience and a review of the literature.

[Hepatic chemotherapy by hepatic arterial catheterization with an implantable system allowing permanent vascular access]. / La chimiothérapie hépatique anticancéreuse par cathétérisme artériel hépatique avec système implantable permettant un accès vasculaire permanent.

This technique of anti-cancer treatment of hepatic cancers has a twofold interest: it delivers local chemotherapy in direct contact with the tumours and it allows repeated access to the blood supply of the liver without the need for surgery. This second point is particularly emphasized in the form of a technical description of the method of approach to the hepatic arterial system, which is as non-aggressive as possible and which allows permanent vascular access. This study, which required close collaboration between the departments of Vascular Radiology, Radiotherapy and Surgery, was initially considered as a feasibility study of a technique enabling the simple use of implantable vascular access sites.