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APOGEE-Net/CanGèneTest 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 gènes, mais nécessaire pour traduire les découvertes cliniquement valides et utiles en soins de santé innovateurs. Paru récemment dans le bulletin : |
| 5 juil 2010 Expanded newborn screening: social and ethical issues (restricted access) After a period of expansion driven by technological advances, many reports have reconsidered the justification of expanded programs. Many factors have contributed to test-panel discrepancies between countries. Economic aspects cannot be ignored and can be a limitation for expansion. New ethical questions have emerged: risks of discrimination or stigmatization, respect of the autonomy of persons to make decisions, parental anxiety resulting from a false positive test (especially when reporting to parents screening results for untreatable conditions identified as by-products of screening), etc. For disorders where there is not yet confirmation of benefit, it may be prudent to recommend pilot screening and to have a mechanism that can be used to adapt or even to stop a program. | |
| 5 juil 2010 FDA to Host Public Meeting on Oversight of Laboratory-Developed Tests The U.S. Food and Drug Administration announced plans to hold a public meeting on July 19-20, 2010, to discuss how the agency will oversee laboratory-developed tests (LDTs). It will be held in Hyattsville, Maryland. It will also be webscasted at no charge to participants. During the two-day meeting, an overview of the history and current regulatory status of LDTs will be discussed. The meeting will also be divided into four sessions: Patient Considerations, Challenges for Laboratories, Direct-to-Consumer Marketing of Testing, Education and Outreach. | |
| 5 juil 2010 Newborn screening programmes including genetic analyses: limits and risks of negative consequences? (restricted access) Newborn screening for inherited disorders enables early identification of affected children and intervention to prevent or mitigate morbidity and mortality associated with these conditions. Since 1962, most areas throughout the world have developed newborn screening (NBS) programmes including for more than 50 serious disorders.1 2 While most diseases are screened by biochemical techniques only, the NBS programme for cystic fibrosis (CF), which is being implemented in an increasing number of countries (USA, UK, Spain, France, Italy, Australia, Czech Republic, Poland …),3 4 relies on determination of immunoreactive trypsinemia (IRT) and subsequent screening for 30 common mutations of the cystic fibrosis transmembrane conductance regulator (CFTR) gene when IRT is above 65 ug/l. Such programmes require careful attention on mutations to be included in the screening panel. | |
| 5 juil 2010 Willingness to Pay for Genetic Testing: A Study of Attitudes in a Canadian Population (restricted access) This article reports results of a 2008 telephone survey of approximately 1,200 residents of the Province of Alberta, Canada. The goal was to explore attitudes and interest regarding different types of genetic tests. The principal motivator for interest in genetic testing was to learn clinically relevant details to inform health-related decisions. Curiosity about genetic risk had only a modest impact on consumer interest. | |
| 5 juil 2010 Silver-Russell syndrome: genetic basis and molecular genetic testing Imprinted genes with a parent-of-origin specific expression are involved in various aspects of growth that are rooted in the prenatal period. Therefore it is predictable that many of the so far known congenital imprinting disorders (IDs) are clinically characterised by growth disturbances. A noteable imprinting disorder is Silver-Russell syndrome (SRS), a congenital disease characterised by intrauterine and postnatal growth retardation, relative macrocephaly, a typical triangular face, asymmetry and further less characteristic features. However, the clinical spectrum is broad and the clinical diagnosis often subjective. Genetic and epigenetic disturbances can meanwhile be detected in approximately 50% of patients with typical SRS features. | |
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