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Enjeux sociétaux et de l'organisation des soins liés à la généralisation de l'accès aux tests génétiques en France : analyse des évolutions en cours et évaluation qualitative des pratiques auprès de médecins non-généticiens

Abstract : Genetic testing is widely accepted to be a common practice in many medical specialties. Nonetheless, it raises specific issues that impact the trajectory of people’s lives, not only in the short term, but in the long term as well, and shakes up notions of prevention, prediction, health and illness for patients and their families. These genetic tests raise questions central to the choices individuals and society must make when using them, such as respecting basic rights, handling results and uncertainty and balancing concerns for medical confidentiality with the rights of third parties. We need to consider how to help physicians deal with the rapid development of genomic medicine, for which most of them are not specifically trained. Analysing how these professionals integrate genetic testing into the patient-provider relationship is essential to paving the way for a better use of genomics by all.We used a multidisciplinary approach that brings together medical geneticists, legal experts, sociologists, ethicists and patient associations to conduct a discussion on the medical, ethical, sociological and legal stakes of widespread genetic testing. We also conducted a qualitative study made up of a series of semi-structured interviews in focus groups with 21 neurologists and endocrinologists about their genetic testing practices.Based on these discussions and the qualitative study, we recommend implementing regulations that promote a true policy supporting medical practices surrounding genetic testing by:1. Promoting research about the medical usefulness of genetic testing for patients and their families in face of the uncertainties related to test results, especially when it involves offering genetic testing to the general population.2. Orienting practices toward a systemic approach using a multidisciplinary team or network (including organ specialists and clinical and biologist geneticists) to provide resources for dealing with uncertainties in interpreting results or situations that require additional technical or clinical skills and, if necessary, to allow for joint consultations with both a geneticist and a non-geneticist medical specialist.3. Collecting additional quantitative data about these practices, including legal and economic data, and meeting with health professionals involved in genomic medicine to effect changes in the regulatory framework, which currently seems to be only partially suited to widespread genetic testing and medical practices. This groundwork seems essential to educating legislators before any changes are made during an upcoming revision of the French Bioethics Act.4. Promoting real patient autonomy and avoiding the recommendation of genetic testing in automated care management procedures. The simple fact of having a written consent cannot justify making genetic testing commonplace given the stakes associated with the results. Autonomy could be increased by providing prescribing physicians with continuing medical education sessions to make them aware of the issues and increasing public’s level of genetic literacy.All in all, this dialog between genetic medical/technical disciplines and human and social sciences seems relevant considering the many difficult social challenges. Such a dialog is likely to recommend appropriate support for each patient and family with regard to medical genetics.
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Submitted on : Tuesday, June 15, 2021 - 1:01:37 AM
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Laurent Pasquier. Enjeux sociétaux et de l'organisation des soins liés à la généralisation de l'accès aux tests génétiques en France : analyse des évolutions en cours et évaluation qualitative des pratiques auprès de médecins non-généticiens. Médecine humaine et pathologie. Normandie Université, 2020. Français. ⟨NNT : 2020NORMC418⟩. ⟨tel-03260429⟩

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