Prevalence, Awareness, and Management of CKD and Cardiovascular Risk Factors in Publicly Funded Health Care
The CARTaGENE study evaluated BP, lipid, and diabetes profiles as well as various treatments over 20,000 random individuals between ages 40-69. Many patiens were not aware of their health conditions or how best to achieve their targets to achieve better health. Study concluded that self-awareness is quite low.
Whole-Exome Sequencing Reveals a Rapid Change in the Frequency of Rare Functional Variants in a Founding Population of Humans
This study indicated that French populations contain a larger proportion of putatively damaging functional variants which could explain incidence of genetic disease in the province. There is a need for deep cataloguing of genetic variants by rescheduling worldwide human populations in order to truly assess disease risk.
Exploiting gene expression variation to capture gene-environment interactions for disease
The two researchers surveyed the current state of the concept of transcriptional gene-environment interactions and discuss its utility for mapping disease genotypes. The article noted human transcriptome is still fairly new in the literature and could have more information brought about it.
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.
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.