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CARTaGENE biobank

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CARTaGENE is a population based cohort based on an ongoing and long-term health study of 40, 000 men and women in Québec. It is a regional cohort member of the Canadian Partnership for Tomorrow Project.[1] 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.[2] CARTaGENE is under the scientific direction of Sébastien Jacquemont, M.D., Ekaterini Kritikou, Ph.D. and Philippe Broët, M.D. Ph.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[3] and the Canadian Partnership Against Cancer (CPAC) since 2007 among other sources.[2] The program was initially founded by Professors Claude Laberge and Bartha Knoppers, and developed through two phases of participant recruitment under the direction of Professor Philip Awadalla as Scientific Director of the cohort from 2009 to 2015, who is now the National Scientific Director of the Canadian Partnership for Tomorrow Project[4] (CPTP).[5]

Design

The CARTaGENE cohort was set up to recruit 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.[2] Taking place between August 2009 and October 2010, 20 007 participants were enrolled in its first phase of recruitment (Phase A)[5] and between December 2012 and February 2015 a new wave of recruitment (Phase B) has enrolled an additional 20 000 participants.[2] 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).[5] Participants were also selected to be representative of 1% of the metropolitan areas of Québec, specifically Montreal, Québec city, Sherbrooke and the Saguenay.[5] 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.[5] 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.[5] 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[4] (CPTP).[5]

Molecular profiling

Detailed clinical chemistry and complete blood counts for each of the participants was collected.[5] Detailed lipid profiles, Hba1c, bone density and creatinine[5] were also collected. Blood collection was designed such that DNA and RNA can be extracted for future use[5] allowing for population level gene expression analysis and genotyping.[5] Storage conditions are also optimized for proteomics and lipidomics.[5] The CARTaGENE project has a Systems Genomics program to identify critical events associated with a number of cardiovascular related endophenotypes.[2] It is developing integrative technologies and approaches to capture esingle-nucleotide polymorphisms (eSNPs) associated with endophenotypes.[6]

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[5]

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[7] model. The scales used in the questionnaires were developed and revised by more than 30 experts from various fields and are widely used.[5] These included the Patient Health questionnaire,[8] the General Anxiety Scale,[9] the Job Content[10] and International Physical Activity Questionnaire (IPAQ).

Beginning in 2009, under the direction of Professor Philip Awadalla, a total of 12 assessment sites across the province were established for clinical and physical assessments.[5] Following initial phone contact, participants were invited to come to the assessment site and sign a consent form.[5] They were asked to complete a self-administered wikt:socio-demographic and lifestyle questionnaire and an interviewer-administered health questionnaire.[5] A genealogical questionnaire was also included[11] for completion online. Non-invasive measurements were taken for all participants that included basic measurements such as weight, height, blood pressure.[5] Blood, saliva and urine were collected and preserved at the Biobanque Génome Québec and the affiliated University Hospital Center in Chicoutimi (Biobanque GQ-CAURC[12]) for future use.[5] Surveys about nutrition[2] are also included and residential information, occupational history and food frequency data questionnaires are administered.[2] Ending in February 2015, a total of over 40,000 participants were recruited to the CARTaGENE program and data is accessible through the Canadian Partnership for Tomorrow Program portal [13]

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.[2] 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),[14] (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)",[15] the "Guide d’élaboration de normes de gestion des banques de données also from the MSSS (2004)"[16] and the "Politique de la recherche avec des êtres humains (2004)"[17] among others.[2]

CARTaGENE is monitored by the Research ethics Board of the Sainte-Justine University Health Center.[2] It is also under the supervision of the Information Access Commission (the CAI[18]). 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.[2]

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.[2] 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.[2]

Researchers can request access to the CARTaGENE data through the Canadian Partnership for Tomorrow Project Portal.[13] Researchers must submit an application and undergo evaluation by an independent Sample and Data Access Committee (SDAC).[2] eThe 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).[2] 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.[2]

Recruitment and reassessment

Health reassessments will take place regularly, using web-based questionnaires in the coming years.[5] Patients may be tracked for up to 50 years based on their linkage to governmental health administrative databases.[5]

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.[19] 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).[4] CPTP has recruited over 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.[20]

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.[21] The main concerns raised were about safeguarding medical records and confidentiality, respect for individual transparency, the donor's right to feedback and governance.[21]

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 »[22]
  • Le Soleil, Jean François Cliche (15 janvier 2013) « Projet Cartagène: jusqu'à un Québécois sur deux malade sans le savoir »[23]
  • Le Droit/La Presse Canadienne, Lia Levesque (Janvier 2013) «Des Québécois atteints de maladies chroniques sans le savoir »[22]
  • La Tribune/La Presse Canadienne, Lia Levesque (14 Janvier 2013) «Des Québécois atteints de maladies chroniques sans le savoir »[24]
  • Le Devoir, Pauline Gravel (15 janvier 2013) « Cartagène commence à porter ses fruits »[25]
  • The Gazette, Charlie Fidelman (15 janvier 2013) « Quebec's CARTaGene genetic study shows "huge portion" of population unaware of chronic diseases»[26]
  • The Ottawa Citizen, Charlie Fidelman (15 janvier 2013) « Quebec's CARTaGene genetic study shows "huge portion" of population unaware of chronic diseases»[26]
  • Le Devoir, Pauline Gravel (18 janvier 2013) « Données génétiques - La biobanque Cartagène est hautement sécurisée »[27]

Television

  • Radio-Canada TV, Catherine Kovacks (14 janvier 2013) « Cartagène à la recherche de volontaires »[28]
  • CBC News Montreal Late, Nancy Woods (14 janvier 2013) Montreal Late 12:28[29]

CARTaGENE Symposium

References

  1. ^ "Canadian Partnership for Tomorrow Project -".
  2. ^ a b c d e f g h i j k l m n o p "Cartagene". cartagene.qc.ca. Retrieved 3 April 2013.
  3. ^ "Recherche québécoise - Génome humain & ADN | Génome Quebec".
  4. ^ a b c "Canadian Partnership for Tomorrow Project -".
  5. ^ a b c d e f g h i j k l m n o p q r s t u 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. 42 (5): 1285–99. doi:10.1093/ije/dys160. PMID 23071140. Retrieved 3 April 2013.
  6. ^ Idagdhour, Youssef; Awadalla, Philip (October 2012). "Exploiting gene expression variation to capture gene-environment interactions for disease". Frontiers in Genetics. 3: 6. doi:10.3389/fgene.2012.00228. PMC 3668192. PMID 23755064.{{cite journal}}: CS1 maint: unflagged free DOI (link)
  7. ^ "RStudio Sign in". Archived from the original on 2014-10-09. Retrieved 2013-04-02.
  8. ^ Spitzer RL, Kroenke K, Williams JB (1999). "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. 282 (18): 1737–44. doi:10.1001/jama.282.18.1737. PMID 10568646.
  9. ^ Spitzer, Robert L.; Kroenke, Kurt; Williams, Janet B. W.; Löwe, Bernd (2006). "A Brief Measure for Assessing Generalized Anxiety Disorder". Archives of Internal Medicine. 166 (10): 1092–7. doi:10.1001/archinte.166.10.1092. ISSN 0003-9926. PMID 16717171.
  10. ^ Karasek, R.; et al. (1998). "The Job Content Questionnaire (JCQ): an instrument for internationally comparative assessments of psychosocial job characteristics". Journal of Occupational Health Psychology. 3 (4): 322–355. doi:10.1037/1076-8998.3.4.322.
  11. ^ "QRS - BALSAC". www.quebecgenpop.ca. Retrieved 2019-08-12.
  12. ^ "Archived copy". Archived from the original on 2013-08-14. Retrieved 2013-04-03.{{cite web}}: CS1 maint: archived copy as title (link)
  13. ^ a b https://portal.partnershipfortomorrow.ca/
  14. ^ "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)
  15. ^ "Plan d'action ministériel en éthique de la recherche et en intégrité scientifique". ethique.msss.gouv.qc.ca. msss. 1998.
  16. ^ "Guide de normes de gestion des banques de données" (PDF). msss.gouv.qc.ca. MSSS.
  17. ^ "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)
  18. ^ "Commission d'accès à l'information du Québec |".
  19. ^ 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).
  20. ^ 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): 1197–1201. doi:10.1503/cmaj.091540. PMC 2917932. PMID 20421354.
  21. ^ 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).
  22. ^ a b "LaPresse.ca | Actualités et Infos au Québec et dans le monde". La Presse (in French). Retrieved 2019-08-26.
  23. ^ "LaPresse.ca | Actualités et Infos au Québec et dans le monde". La Presse (in French). Retrieved 2019-08-12.
  24. ^ Levesque, L. in La Tribune http://www.lapresse.ca (La Presse,http://www.lapresse.ca, 2013).
  25. ^ "Le Devoir | Nouvelles, actualités, politique, culture et chroniques". www.ledevoir.com (in French). Retrieved 2019-08-12.
  26. ^ a b Fidelman, C. (The Montreal Gazette, 2013).
  27. ^ Gravel, P. in Le Devoir (2013).
  28. ^ Radio-Canada.ca, T. (Radio-Canada, 2013).
  29. ^ CBC News: Montreal Late Night http://www.cbc.ca/player/News/Canada/Montreal/ID/2325600354/ (2013).
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