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At the 12th International Congress of Human Genetics held in Montreal in October 2011, EuroGentest and APOGEE-Net/CanGeneTest jointly organized a session entitled "Challenges in the Translation of Genomic Innovations into Clinical Care". The session was opened by François Rousseau (Université Laval) who presented the APOGEE-Net/CanGeneTest Network and its role in addressing the challenges of translating genomic and genetic innovations into the health care system. Gert Matthijs (University of Leuven) presented the EuroGentest Network and its role in the improvement and standardization of quality in genetic testing. Joris Vermeesch (University of Leuven) described two pilot studies of external quality assessment of constitutional molecular karyotyping, and Helena Kääriäinen (University of Helsinki) described the impact of the increasing importance of genetic testing in health care. Daniel Reinharz (Université Laval) presented cost/effectiveness and cost/utility simulations for selected genetic and genomic health innovations, and Renaldo Battista (Université de Montréal) discussed the role of health technology assessment in the translational process. The session was a success as it attracted over 60 participants despite the concurrent presentation of several other events, underlining the importance of these questions to the medical and scientific community. One of the conclusions of this event was that there is strong complementarity between the activities of each Network and that there is room for even more synergy between the different teams working in this area. More information on the session can be obtained by following this link : http://www.eurogentest.org/web/info/public/ICHG_AncillaryEvent2011.xhtml= APOGEE-Net/CanGeneTest est un réseau international de recherche et de connaissances étudiant les défis posés par les soins et les politiques de santé incluant ceux reliés aux services de génétique de laboratoire. Son objectif général est d'améliorer le transfert technologique d'innovations génétiques qui sont utiles au plan clinique et d'un rapport coût/efficacité intéressant vers le système de santé, ainsi que de stimuler le développement de politiques de santé éclairées par les données probantes. Utilisant une approche multidisciplinaire, nous visons à étudier le cheminement du test génétique, de sa découverte dans le laboratoire de recherche fondamentale jusqu'à son utilisation dans un contexte clinique. De plus, grâce à notre bulletin électronique et ce site WEB, nous espérons contribuer à la dissémination d'une information juste et pertinente à tous nos collègues intéressés par ce domaine de la recherche, en aval de la découverte des gênes, mais nécessaire pour traduire les découvertes cliniquement valides et utiles en soins de santé innovateurs. Paru récemment dans le bulletin : |
| 30 avr 2013 CanGeneTest The aim if this organization is to provide support to parents of children born with rare chromosome disorders, gather together and share information, and to promote research and a positive community understanding of these disorders. The sites includes an extensive library of available up-to-date articles, detailed registry, newsletters, research opportunities. | |
| 30 avr 2013 CanGeneTest This study is an analysis of a survey conducted as part of the Council of Academic Family Medicine Educational Research Alliance (CERA). Academic family physicians in the United States and Canada were queried about their perception of genetic testing’s utility, how frequently patients ask about genetic testing, and the importance of genetic testing in future practice and education of students and residents. Results show that academic family physicians acknowledge their lack of knowledge about genetic tests. Educational initiatives may be useful in helping them incorporate genetic testing into practice and in teaching these skills to medical students and residents. | |
| 30 avr 2013 CanGeneTest While all states require newborn screening for every infant, the number of conditions on a state's screening panel varies from state to state. A complete list of the conditions screened for each state can be found here. | |
| 30 avr 2013 CanGeneTest The number of clinically available genetic tests for heritable cardiovascular diseases has recently increased because of novel gene discoveries and advancements in DNA sequencing technologies. The purpose of this review is to provide up-to-date genetic testing information and guidance on how to incorporate genetic testing into cardiovascular medicine. | |
| 30 avr 2013 CanGeneTest The aim of this study was to develop, operationalize, and pilot test a transparent, reproducible, and evidence-informed method to determine when to report incidental findings from next-generation sequencing technologies. Using evidence-based principles, the authors proposed a threestage process | |
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