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CanGènetest est un consortium de recherche pancanadien étudiant les défis posés par les soins et les politiques de santé reliés aux services de génétique de laboratoire. 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 le domaine des services de génétique de laboratoire.

Paru récemment dans le bulletin :

7 août 2008
Putting science over supposition in the arena of personalized genomics (restricted access)
Here, the authors explore the process of going from genome discovery to evaluation of medical impact, and discuss emerging challenges faced by the scientific community. Specifically, they characterize the delicate balance involved in deciding when genomic discoveries such as gene-disease associations are 'ready' to be evaluated as potential tools to improve health. They recommend that a considerable research commitment be made now in order to successfully bridge the rapidly widening gap between gene-disease association research and the critical investigations into public health and clinical utility. Lastly, they describe a large, ongoing, early-phase research project, the Multiplex Initiative, which is examining issues related to the utility of genetic susceptibility testing for common health conditions.
 
7 août 2008
Presymptomatic Genetic Testing in Children for Neurofibromatosis 2 (restricted access)
A convenience sample of 10 parents from nine families who had made the decision whether or not to test their children for the neurofibromatosis 2 gene mutation was asked in interviews to describe why they made their choice about presymptomatic testing for this late-onset disease. Findings from a narrative analysis revealed how the nine parents who tested or intended to test their young children saw the decision as a pathway to knowledge that would help the family unit. All parents interviewed noted that their decision was informed by their health team and was not difficult to make. Implications of these findings for bioethical analysis are presented.
 
7 août 2008
Experience and outcome of 3 years of a European EQA scheme for genetic testing of the spinocerebellar ataxias (restricted access)
The European Molecular Genetics Quality Network (EMQN) has been organizing an external quality assessment (EQA) scheme for molecular genetic testing of trinucleotide repeat mutations in the spinocerebellar ataxias (SCAs) since 2004. DNA samples were validated by at least two independent labs and two different methods. Together with mock clinical case descriptions and requests for specific SCA gene analyses, these were sent to registered participants each year. A panel of assessors reviewed the final returns, including genotype results and reports, to assess the quality of genotyping, and interpretation and reporting. Current evidence shows that it is important that laboratories participate on a yearly basis and that this becomes mandatory for reference laboratories.
 
7 août 2008
Expanded Screening to Improve Health of B.C Babies
Newborn babies in British Columbia will now be screened for more than three times as many disorders at birth that can be treated to avoid lifelong health issues. The decision to expand the province’s newborn screening is based on the recommendation from the Newborn Screening Advisory Committee, established by the Provincial Health Services Authority (PHSA).
 
7 août 2008
Direct multiplex assay of enzymes in dried blood spots by tandem mass spectrometry for the newborn screening of lysosomal storage disorders
The authors have developed assays for lysosomal enzymes in re-hydrated dried blood spots in which a set of substrates is added and the set of corresponding enzymatic products are quantified using tandem mass spectrometry with the aid of mass-differentiated internal standards. They have developed a multiplex assay of the set of enzymes that, when deficient, cause the lysosomal storage disorders Fabry, Gaucher, Hurler, Krabbe, Niemann–Pick A/B and Pompe diseases. When tested with dried blood spots from 40 unaffected individuals and 10–12 individuals with the lysosomal storage disorder, the tandem mass spectrometry assay led to the correct identification of the affected individuals with 100% sensitivity.