Search:  
 
Home About us Research Themes Principal investigators Links Contact us Français









Home

CanGèneTest is a pan-Canadian research consortium studyingHealth Care and Health Policy Challenges in Genetic Laboratory Services. Through a multidisciplinary approach, we aim to study the path that links the fundamental research discoveries in genetics to the use of molecular diagnostic tests in the clinical setting. Moreover, with our e-Newsletter and this WEB site, we expect to contribute to disseminate timely and relevant scientific materials to colleagues interested in the broad field of genetic laboratory services. Subscribe to the Newsletter here.

CanGèneTest Newsletter Highlights :

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
The Global Proteome Machine Organization - Proteomics Database and Open Source Software
The Global Proteome Machine Organization was set up so that scientists involved in proteomics using tandem mass spectrometry could use that data to analyze proteomes. The projects supported by the GPMO have been selected to improve the quality of analysis, make the results portable and to provide a common platform for testing and validating proteomics results.
 
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
Confidentiality, privacy, and security of genetic and genomic test information in electronic health records: points to consider (restricted access)
This article discusses characteristics of genetic/genomic test information, including predictive capability, immutability, and uniqueness, which should be considered when developing policies about information protection. Issues related to "genetic exceptionalism"; i.e., whether genetic/genomic test information should be treated differently from other medical information for purposes of data access and permissible use, are also considered. These discussions can help guide policy that will facilitate the biological and clinical resource development to support the introduction of this information into health care.
 
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.