Genetics Tests : How to Improve Management Within Two Medical Specialities

Diagnostic Techniques and Procedures, Genetics

This survey will assess discrepancies between official clinical genetics guidelines and practices within 3 West regions of France.

Genetic tests are now widely used in medicine whatever specialities or ages. However genetic tests are not common biological exams as they may either reveal genetic anomalies before any signs (presymptomatic diagnosis) or handle the gene pool of an entire family but not only one patient. Due to these specific managements, genetics tests have required specific laws for nearly 20 years in France. The French 2011 Bioethics Law (and its decree in 2013) especially issues involving genetic tests now establishes purposes for which genetic data can be disclosed and switch for patient civil responsibility towards his family. This patient has no longer choice and the medical confidentiality might now be breached. Although specific guidelines practices have been spread by officials, the gap between recommendations and uses tend probably to be huge especially from non-geneticist physicians. This survey will assess discrepancies between official clinical genetics guidelines and practices within 3 West regions of France. 20 focus groups are intended to be lead with neurologists and oncologists working in hospitals as theses physicians face different genetic issues daily. 20 interviews are scheduled with patients. The investigators aim at collecting information from medical, legal and sociological points of view in order to better understand these gaps. This will be the first attempt to gather and understand medical practices in the genetic tests area. This could be useful to adapt courses in medical school and along professional life and how to spread them for a deep impact.

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France