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Methodological approaches

CanGenèTest has a multidisciplinary nature and adopts many approaches related to its research areas. We analyze, through qualitative designs, interactions between major actors related to the field of genetic laboratories, interactions between patients and health professionals. We use quantitative approaches (survey) to better understand the current status of genetic laboratories in terms of quality of communications between labs and physicians, quantitative data about tests realized, laboratory procedures, quality control practices, etc. We developped computer simulation tools to estimate cost-effectiveness of genetic tests (or diagnostic/screening algorithms) for genetic conditions. The validity of genetic diagnostic tools relying on precise knowledge of genetic characteristics of the related disease, we have to identify and summarise the evidence base on these characteristics (e.g. sensitivity, specificity, penetrance, prevalence, etc…). We developped and use a tool (“technology transfer checklist”) aiming at the systematic identification of the evidence-base for introducing a molecular test in routine use. We also develop and evaluate evidence-based tutorials for acquiring mastery skills related to the use of genetic laboratory services. The methodology used for studying the regulatory framework of the public offer of testing and of laboratory practices involves the study of different databases and examination and comparison of normative approaches at three levels: provincial, national and international. Also, mixed approaches combining qualitative and quantitative evidence are being used.