Cohort profile of the CARTaGENE study: Quebec’s population-based biobank for public health and personalized genomics
Over 20 000 participants consented to visiting 1 of 12 assessment sites where detailed health and socio-demographic information, physiological measures and biological samples (blood, serum and urine) were captured for a total of 650 variables. Significant correlations of diseases and chronic conditions are observed across these regions, implicating complex interactions, some of which we describe for major chronic conditions.
Exome sequencing identifies mutations in the gene TTC7A in French-Canadian cases with hereditary multiple intestinal atresia.
Cogenital Multiple Intestinal Atresia is a fatal disorder that can cause organs to shutdown and obstructions in the small and large intestines. They looked a 5 different families to determine the gene structure and found that TTC7A is likely a causal gene for MIA.
Access Arrangements’ for Biobanks: A Fine Line between Facilitating and Hindering Collaboration
This paper looked at how access arrangements identify key elements of these new regulatory instruments. It also looks at the different ways biobanks regulate access and surveys, it also outlines the challenges involved with creating access policy with CARTaGENE.
The Canadian Partnership for Tomorrow Project: building a pan-Canadian research platform for disease prevention
This article outlines the challenges a pan-Canadian cohort to look at cancer and chronic disease. The hope of this cohort will be that it could be a major research platform for the study of disease causation nationally, and internationally. They outlined how they got their participants, which provinces are involved, and how this specific cohort is unique.
Quality, quantity and harmony: the DataSHaPER approach to integrating data across bioclinical studies
The DataSHaPER is being used with CPTP to integrate their data in a way that it can easily be harmonized and pooled together.
Pharmacogenomic data sample collection and storage: ethical issues and policy approaches
This journal highlighted that CARTaGENE’s data would become more important over time in pharmocogenomic research to find out the association between genetic variations and drug-related effects. The ability of database creators to meet ethical issues will determine how pharmocogenomics can be integrated into mainstream clinical practice.
Strategies for consulting with the community: The cases of four large-scale genetic databases
This journal outlined how CARTaGENE is taking a partnership approach so that they could get more participation in their studies and better develop their databases.