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***APOGÉE-Net/CanGèneTest ­ EuroGentest Ancillary Meeting at the International Congress of Human Genetics in Montreal October 13 2011***
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/CanGèneTest is an international research and knowledge network studying health care and health policy challenges in genetic services, including genetic laboratory services. Its general objective is to streamline the technology transfer of clinically useful and cost/effective genetic innovations towards the health care system and support the development of evidence-informed health policies.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 this broad field of research, downstream of the gene discovery, necessary to translate the clinically valid and useful discoveries into novel health care services.

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CanGèneTest Newsletter Highlights :

jan 21 2012
Testing the ethics of genetic testing in sports
Many genetic researchers and academics have raised questions about the scientific validity of genetic tests in sports, claiming they have little predictive value. Some critics have also raised another concern: Is it ethical to test people, particularly children, for athletic potential? Related article: Genetic tests for athletic ability: Science or snake oil?
 
jan 21 2012
Consultation on newborn screening for Thalassaemia
The NHS Sickle Cell and Thalassaemia Screening Programme is seeking the views of stakeholders and interested parties on the recent report - Newborn Screening for Thalassaemia. All comments must be received by 21st March 2012. Original report: Newborn Screening for Thalassaemia
 
jan 21 2012
Newborn Blood Spot Card Review 2011 – Consultation
As the newborn blood spot card has been in use for nearly two years, the UK Newborn Screening Programme Centre (UKNSPC) is reviewing the current content and layout. A consultation with stakeholders was held for four weeks and closed on 14th November 2011. A consultation report detailing recommended revisions for consideration is now available. The UKNSPC advises that a new blood spot card will not be in circulation before summer 2012.
 
jan 21 2012
How novel molecular diagnostic technologies and biomarkers are revolutionizing genetic testing and patient care (restricted access)
This article discusses how some of these emerging novel molecular diagnostic technologies and analytes, such as next-generation sequencing, chromosomal microarray, microRNAs and circulating fetal nucleic acids are revolutionizing patient care and personalized medicine.
 
jan 26 2012
Verification of Performance Specifications of a Molecular Test: Cystic Fibrosis Carrier Testing Using the Luminex Liquid Bead Array
The objective of this study is to provide an example of the verification of a specific qualitative in vitro diagnostic test: cystic fibrosis carrier testing using the Luminex liquid bead array (Luminex Molecular Diagnostics, Inc, Toronto, Ontario). Results show that protocols for verification of in vitro diagnostic assays may vary between laboratories. However, all laboratories must verify several specific performance specifications prior to implementation of such assays for clinical use. The authors provide an example of an approach used for verifying performance of an assay for cystic fibrosis carrier screening.