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Below you will find publications from members of the Network sorted by topics :


Genetic Laboratory Services :

The CanGèneTest Pan-Canadian Research Consortium on Genetic Laboratory Services


Test Validation :

Assessment of the prevalence of the 985A>G MCAD mutation in the French-Canadian population using allele-specific PCR

LRP5 coding polymorphisms influence the variation of peak bone mass in a normal population of French-Canadian women

Screening and instability of FMR1 alleles in a prospective sample of 24,449 mother–newborn pairs from the general population

Interlaboratory Diagnostic Validation of Conformation-Sensitive Capillary Electrophoresis for Mutation Scanning

Considerations for the development of a reference method for sequencing of haploid DNA – an opinion paper on behalf of the IFCC Committee on Molecular Diagnostics. International Federation of Clinical Chemistry and Laboratory Medicine

Diagnostic guidelines for high-resolution melting curve (HRM) analysis: An interlaboratory validation of BRCA1 mutation scanning using the 96-well LightScanner™


Technology Assessment :

Revisiting Wilson and Jungner in the genomic age: a review of screening criteria over the past 40 years

Introducing patient perspective in health technology assessment at the local level

High-resolution array genomic hybridization in prenatal diagnosis

Combining Biochemical and Ultrasonographic Markers in Predicting Preeclampsia: A Systematic Review


Health Economics :

Hereditary hemochromatosis screening: effect of mutation penetrance and prevalence on cost-effectiveness of testing algorithms

Comparison of different strategies in prenatal screening for Down's syndrome: cost effectiveness analysis of computer simulation

Parental perceived value of a diagnosis for intellectual disability (ID): A qualitative comparison of families with and without a diagnosis for their child's ID

Valuing the benefit of diagnostic testing for genetic causes of idiopathic developmental disability: willingness to pay from families of affected children

The cost-effectiveness of genetic testing strategies for Lynch syndrome among newly diagnosed patients with colorectal cancer

Shared Decision Making in Healthcare : Interventions for improving the adoption of shared decision making by healthcare professionals

Instruments to assess the perception of physicians in the decision-making process of specific clinical encounters: a systematic review

How much do family physicians involve pregnant women in decisions about prenatal screening for Down syndrome?

Physicians' reactions to uncertainty in the context of shared decision making

Users' perspectives of barriers and facilitators to implementing EHR in Canada: A study protocol


Regulation of Health Services :

L'encadrement législatif de la vente directe des tests génétiques et le système de santé Québecois

Differences in Regulatory Frameworks Governing Genetic Laboratories in Four Countries

Legal uncertainty in the area of genetic diagnostic testing


Organization of Health Services :

Variability in the use of CE-marked assays for in vitro diagnostics of CFTR gene mutations in European genetic testing laboratories


Knowledge Translation :

Development and description of GETT: a Genetic testing Evidence Tracking Tool

The wizard of WOS—or the art of the task force

Combining Communication Technology Utilization and Organizational Innovation: Evidence from Canadian Healthcare Decision Makers


Public Health and Policy :

Integrative genomics, personal-genome tests and personalized healthcare: the future is being built today

Pharmacogenetics in Europe: Barriers and Opportunities

Big risks in small groups: The difference between epidemiology and counselling

The phantom menace of gene patents

The Helix in the Labyrinth: Do We Need Genetic Health Services and Policy Research?

Guiding Policy Decisions for Genetic Screening: Developing a Systematic and Transparent Approach

The Contribution of Health Technology Assessment, Health Needs Assessment, and Health Impact Assessment to the Assessment and Translation of Technologies in the Field of Public Health Genomics