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CARTaGENE biobank

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CARTaGENE is a population based biobank and a large ongoing and long-term health study of men and women in Québec. The project's core mandate is to identify the genetic and environmental causes of common chronic diseases affecting the Québec population. The overall objective from a public health perspective is to develop personalized medicine and public policy initiatives targeting high-risk groups.[1] The CARTaGENE Biobank is under the scientific direction of Anne-Monique Nuyt, M.D., and Sébastien Jacquemont, M.D., of the Sainte-Justine Children’s Hospital University Health Center. Based in Montréal Québec, Canada, CARTaGENE is operated under the infrastructure of the Sainte-Justine Children’s Hospital University Health Center and has seen funding from Genome Canada, the Canadian Foundation for Innovation and Génome Québec[2] and the Canadian Partnership Against Cancer (CPAC) since 2007 among other sources.[1]

Design

The CARTaGENE Biobank is an infrastructure set up to recruiting men and women aged 40–69 years old from Québec representing an age range most at risk for developing chronic diseases, including cardiovascular disease, metabolic disorders like diabetes mellitus and cancer among others.[1] Taking place between August 2009 and October 2010, 20 007 participants were enrolled in its first phase of recruitment (Phase A)[3] and between December 2012 and February 2015 a new wave of recruitment (Phase B) has enrolled an additional 20 000 participants.[1] The participants were randomly selected and tracked based on their files in the governmental health administrative databases (RAMQ-Régie de l’Assurance Maladie du Québec).[3] Participants were also selected to be representative of 1% of the metropolitan areas of Québec, specifically Montreal, Québec city, Sherbrooke and the Saguenay.[3] Because of administrative linkage between the RAMQ and the CHU Sainte-Justine, participants can be passively followed for the next 50 years making it one of the longest and largest ongoing population studies in the world.[3] Information packages about the project were first sent by mail and potential participants were contacted by telephone to enroll and schedule visits to one of the clinical assessment sites.[3] A total of 12 assessment sites across the province were established for clinical and physical assessments.[3] Following initial phone contact, participants were invited to come to the assessment site and sign a consent form.[3] They were asked to complete a self-administered wikt:socio-demographic and lifestyle questionnaire and an interviewer-administered health questionnaire.[3] A genealogical questionnaire was also included[4] for completion online. Non-invasive measurements were taken for all participants that included basic measurements such as weight, height, blood pressure.[3] Blood, saliva and urine were collected and preserved at the Biobanque Génome Québec and the affiliated University Hospital Center in Chicoutimi (Biobanque GQ-CAURC[5]) for future use.[3] Surveys about nutrition[1] are also included and residential information, occupational history and food frequency data questionnaires are administered.[1] Moreover, CARTaGENE is part of a Canada-wide cohort collecting samples across the country whose methods were applied in the design of the five cohorts within the Canadian Partnership for Tomorrow Project[6] (CPTP).[3]

Molecular profiling

Detailed clinical chemistry and complete blood counts for each of the participants was collected.[3] Detailed lipid profiles, Hba1c, bone density and creatinine[3] were also collected. Blood collection was designed such that DNA and RNA can be extracted for future use[3] allowing for population level gene expression analysis and genotyping.[3] Storage conditions are also optimized for proteomics and lipidomics.[3] The CARTaGENE project has a Systems Genomics program to identify critical events associated with a number of cardiovascular related endophenotypes.[1] It is developing integrative technologies and approaches to capture esingle-nucleotide polymorphisms (eSNPs) associated with endophenotypes.[7]

Typical studies

Typical studies include population-based longitudinal studies. Researchers may try to evaluate the contribution of a particular lifestyle, environmental and genetic factor and a chosen endophenotype. The use of endophenotypes facilitates the integration of multiple levels of data painting a more realistic portrait of gene-environment interactions influencing particular endophenotypes[3]

Development

There was an initial pilot study done under the direction of Professor Bartha Knoppers (McGill University) and Professor Claude Laberge (Laval University) that involved 223 participants who responded to a questionnaire based on the P3G DataSHaPER[8] model. The scales used in the questionnaires were developed and revised by more than 30 experts from various fields and are widely used.[3] These included the Patient Health questionnaire,[9] the General Anxiety Scale,[9] the Job Content[10] and International Physical Activity Questionnaire IPAQ.

Initial information collected

  • Signed consent form
  • Genealogical questionnaire: self-administered
  • Health questionnaire: administered by interviewer at clinical sites included socio-demographic factors, lifestyle, mental state, psychosocial environment, personal and family history of disease, health care use and reproductive health and history.
  • Declared health conditions: diagnosis required by a physician.
  • Socio-demographic and lifestyle questionnaire: self-administered
  • Contra-indication questionnaire

Measurements

Ethics and governance

CARTaGENE complies with all local, national, international laws and ethical norms.[1] These include the Canadian Charter of Rights and Freedoms, the Charter of Human Rights and Freedoms, the Civil Code of Québec, the Declaration of Helsinki-World Medical Association (revised in 2008), the Universal Declaration on the Human Genome and Human Rights (1997) and the Universal Declaration on Bioethics and Human Rights: UNESCO (2005),[11] (UNESCO) among others. CARTaGENE also complies with recommendations by the "Plan d’action ministériel en éthique de la recherche et en intégrité scientifique from the MSSS (1998)",[12] the "Guide d’élaboration de normes de gestion des banques de données also from the MSSS (2004)"[13] and the "Politique de la recherche avec des êtres humains (2004)"[14] among others.[1]

CARTaGENE is monitored by the Research ethics Board of the Sainte-Justine University Health Center.[1] It is also under the supervision of the Information Access Commission (the CAI[15]). This organization authorizes the transfer of information from the RAMQ to the call center that contacts participants and all personal information held by CARTaGENE is subject to surveillance by the CAI.[1]

Access

Participant medical history is maintained at a centralized governmental database (RAMQ) allowing researchers to track these individuals for the duration of the study and monitor all medical events, prescriptions of drugs and deaths.[1] The personal information connecting medical records to the patient identification undergoes de-identification and is coded by CARTaGENE, but handled and managed by the RAMQ ensuring patient confidentiality.[1]

To access the database, researchers must submit an application and undergo evaluation by an independent Sample and Data Access Committee (SDAC).[1] The dataset is available to researchers in industry and academic institutions, nationally and internationally. Applications detailing their project proposal are a requirement for review by an independent committee, the Sample and Data Access Committee (SDAC).[1] The scientific management of CARTaGENE along with the SDAC determines if data or results should need to be returned to the project. Submission for access to the dataset is done directly online.[1]

Recruitment and reassessment

The CARTaGENE project has enrolled an additional 19 000 participants in the project.[1] This recruitment is currently underway across the province of Quebec.[1] Health reassessments will take place regularly, using web-based questionnaires in the coming years.[3] Patients may be tracked for up to 50 years based on their linkage to governmental health administrative databases.[3]

Opinion and media

The public was generally receptive to the creation of the CARTaGENE project and an independent study reported on the consultations held with members of the public.[16] The main concerns raised were about safeguarding medical records and confidentiality, respect for individual transparency, the donor's right to feedback and governance.[16]

Local and national media have reported on CARTaGENE.

  • La Presse/La Presse Canadienne, Lia Levesque (15 Janvier 2013) « Un ratio «inquiétant» de Québécois ont une maladie chronique à leur insu »[17]
  • Le Soleil, Jean François Cliche (15 janvier 2013) « Projet Cartagène: jusqu'à un Québécois sur deux malade sans le savoir »[18]
  • Le Droit/La Presse Canadienne, Lia Levesque (Janvier 2013) «Des Québécois atteints de maladies chroniques sans le savoir »[19]
  • La Tribune/La Presse Canadienne, Lia Levesque (14 Janvier 2013) «Des Québécois atteints de maladies chroniques sans le savoir »[20]
  • Le Devoir, Pauline Gravel (15 janvier 2013) « Cartagène commence à porter ses fruits »[21]
  • The Gazette, Charlie Fidelman (15 janvier 2013) « Quebec's CARTaGene genetic study shows "huge portion" of population unaware of chronic diseases»[22]
  • The Ottawa Citizen, Charlie Fidelman (15 janvier 2013) « Quebec's CARTaGene genetic study shows "huge portion" of population unaware of chronic diseases»[22]
  • Le Devoir, Pauline Gravel (18 janvier 2013) « Données génétiques - La biobanque Cartagène est hautement sécurisée »[23]

Television

  • Radio-Canada TV, Catherine Kovacks (14 janvier 2013) « Cartagène à la recherche de volontaires »[24]
  • CBC News Montreal Late, Nancy Woods (14 janvier 2013) Montreal Late 12:28[25]

Harmonization

CARTaGENE has been designed such that its infrastructure including the collection of samples, measurements of biological variables and the storage procedures can be harmonized with other international large-scale cohorts via the Public Population Project in Genomics (P3G) platform. The P3G facilitates the work of biobankers and improves collaboration throughout the international human genomics research community.[26] A nationwide effort is underway to collect samples from participants across Canada, with CaG representing one of five cohorts within the Canadian Partnership for Tomorrow (CPTP).[6] CPTP is recruiting 300 000 participants to create a national databank on population health whose core mandate is to develop strategic initiatives leading to policy change to address the growing impact of chronic disease in a growing Canadian population.[27]

References

  1. ^ a b c d e f g h i j k l m n o p q r "Cartagene". cartagene.qc.ca. Retrieved 3 April 2013.
  2. ^ http://www.genomequebec.com/
  3. ^ a b c d e f g h i j k l m n o p q r s t Awadalla, Philip; Catherine Boileau; Yves Payette; Youssef Idaghour; Jean-Philippe Goulet; Bartha Knoppers; Pavel Hamet; Claude Laberge (October 15, 2012). "Cohort profile of the CARTaGENE study: Quebec's population-based biobank for public health and personalized genomics" (PDF). International Journal of Epidemiology: 2. doi:10.1093/ije/dys160. Retrieved 3 April 2013.
  4. ^ Quebec Reference Sample Population Genetics and Genetic Epidemiology in Quebec: BALSAC, http://www.quebecgenpop.ca/BALfichier_en.html
  5. ^ http://www.genomequebec.com/en/gq-caurc-bionbank.html
  6. ^ a b http://www.partnershipfortomorrow.ca
  7. ^ Idagdhour, Youssef; Awadalla, Philip (October 2012). "Exploiting gene expression variation to capture gene-environment interactions for disease". Frontiers in Statistical Genetics: 6. doi:10.3389/fgene.2012.00228. Retrieved 10 April 2013.{{cite journal}}: CS1 maint: unflagged free DOI (link)
  8. ^ http://www.datashaper.org/
  9. ^ a b Spitzer, R. L., Kroenke, K. & Williams, J. B. Validation and utility of a self-report version of PRIME-MD: the PHQ primary care study. Primary Care Evaluation of Mental Disorders. Patient Health Questionnaire. JAMA : the journal of the American Medical Association 282, 1737-1744 (1999). Cite error: The named reference "spitzer" was defined multiple times with different content (see the help page).
  10. ^ Karasek, R. et al. The Job Content Questionnaire (JCQ): an instrument for internationally comparative assessments of psychosocial job characteristics. Journal of occupational health psychology 3, 322-355 (1998).
  11. ^ "Universal Declaration on Bioethics and Human Rights". www.unesco.org/new/en/social-and-human-sciences/themes/bioethics/bioethics-and-human-rights. http://unesdoc.unesco.org/images/0014/001461/146180E.pdf. 2006. Retrieved 3 April 2013. {{cite web}}: External link in |location= (help)CS1 maint: location (link)
  12. ^ "Plan d'action ministériel en éthique de la recherche et en intégrité scientifique". ethique.msss.gouv.qc.ca. http://ethique.msss.gouv.qc.ca/site/download.php?c6d3e3200feeca4c50623083af406127: msss. 1998. {{cite web}}: External link in |location= (help); Missing or empty |url= (help)CS1 maint: location (link)
  13. ^ "Guide de normes de gestion des banques de données". msss.gouv.qc.ca. http://publications.msss.gouv.qc.ca/acrobat/f/documentation/2012/12-727-02W.pdf: MSSS. {{cite web}}: External link in |location= (help); Missing or empty |url= (help)CS1 maint: location (link)
  14. ^ "Éthique de la recherche avec des êtres humains". ethique.gc.ca. http://ethique.gc.ca/pdf/fra/eptc2/EPTC_2_FINALE_Web.pdf: Gouvernement du Québec. Retrieved 3 April 2013. {{cite web}}: External link in |location= (help)CS1 maint: location (link)
  15. ^ http://www.cai.gouv.qc.ca
  16. ^ a b Godard, B., Marshall, J. & Laberge, C. Community engagement in genetic research: results of the first public consultation for the Quebec CARTaGENE project. Community genetics 10, 147-158, doi:10.1159/000101756 (2007).
  17. ^ Levesque, L. http://www.lapresse.ca (La Presse, http://www.lapresse.ca, 2013).
  18. ^ Cliche, J. F. in Le Soleil http://www.lapresse.ca (2013).
  19. ^ Levesque, L. http://www.lapresse.ca (La Presse, LeDroit, 2013).
  20. ^ Levesque, L. in La Tribune http://www.lapresse.ca (La Presse,http://www.lapresse.ca, 2013).
  21. ^ Gravel, P. in Le Devoir (Le Devoir, http://www.LeDevoir.com, 2013).
  22. ^ a b Fidelman, C. (The Montreal Gazette, 2013).
  23. ^ Gravel, P. in Le Devoir (2013).
  24. ^ Radio-Canada.ca, T. (Radio-Canada, 2013).
  25. ^ CBC News: Montreal Late Night http://www.cbc.ca/player/News/Canada/Montreal/ID/2325600354/ (2013).
  26. ^ Fortin, S., Pathmasiri, S., Grintuch, R. & Deschenes, M. 'Access arrangements' for biobanks: a fine line between facilitating and hindering collaboration. Public Health genomics 14, 104-114, doi:10.1159/000309852 (2011).
  27. ^ Borugian, M. J.; Robson, P.; Fortier, I.; Parker, L.; McLaughlin, J.; Knoppers, B. M.; Bedard, K.; Gallagher, R. P.; Sinclair, S.; Ferretti, V.; Whelan, H.; Hoskin, D.; Potter, J. D. (2010). "The Canadian Partnership for Tomorrow Project: Building a pan-Canadian research platform for disease prevention". Canadian Medical Association Journal. 182 (11): 1197. doi:10.1503/cmaj.091540.
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