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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.
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