CARTaGENE biobank

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.

Taking place between August 2009 and October 2010, 20,007 participants were enrolled in its first phase of recruitment (Phase A){{cite journal|last=Awadalla|first=Philip |author2=Catherine Boileau |author3=Yves Payette |author4=Youssef Idaghour |author5=Jean-Philippe Goulet |author6=Bartha Knoppers |author7=Pavel Hamet |author8=Claude Laberge|title=Cohort profile of the CARTaGENE study: Quebec's population-based biobank for public health and personalized genomics|journal=International Journal of Epidemiology|date=October 15, 2012|pages=1285–99|doi=10.1093/ije/dys160|volume=42 |issue=5 |pmid=23071140|doi-access=free }} and between December 2012 and February 2015, a new wave of recruitment (Phase B) has enrolled an additional 20,000 participants. 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). Participants were also selected to be representative of 1% of the metropolitan areas of Québec, specifically Montreal, Québec City, Sherbrooke and the Saguenay. Because of administrative linkage between the RAMQ and the CHU Sainte-Justine, participants can be passively followed for the next 50 years. 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. 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 (CPTP).

Detailed clinical chemistry and complete blood counts for each of the participants was collected. Detailed lipid profiles, Hba1c, bone density and creatinine were also collected. Blood collection was designed such that DNA and RNA can be extracted for future use, allowing for population level gene expression analysis and genotyping. Storage conditions are also optimized for proteomics and lipidomics. The CARTaGENE project has a Systems Genomics program to identify critical events associated with a number of cardiovascular related endophenotypes. It is developing integrative technologies and approaches to capture single-nucleotide polymorphisms (SNPs) associated with endophenotypes.{{cite journal|last=Idagdhour|first=Youssef|author2=Awadalla, Philip|title=Exploiting gene expression variation to capture gene-environment interactions for disease|journal=Frontiers in Genetics|date=October 2012|pages=6|doi= 10.3389/fgene.2012.00228 |pmid=23755064|pmc=3668192|volume=3|doi-access=free}}

Typical studies include population-based longitudinal studies. Researchers may try to evaluate the contribution of a particular lifestyle, environmental and genetic factors and a chosen endophenotype. The use of endophenotypes facilitates a more realistic dataset on gene-environment interactions influencing particular endophenotypes.

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{{Cite web | url=http://www.datashaper.org/ | title=RStudio Sign in | access-date=2013-04-02 | archive-url=https://web.archive.org/web/20141009183415/http://www.datashaper.org/ | archive-date=2014-10-09 }} model. The scales used in the questionnaires were developed and revised by more than 30 experts from various fields and are widely used. These included the Patient Health questionnaire,{{cite journal |vauthors=Spitzer RL, Kroenke K, Williams JB |title=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 |journal=JAMA |volume=282 |issue=18 |pages=1737–44 |year=1999 |pmid=10568646 |doi= 10.1001/jama.282.18.1737|doi-access= }} the General Anxiety Scale,{{cite journal|last1=Spitzer|first1=Robert L.|last2=Kroenke|first2=Kurt|last3=Williams|first3=Janet B. W.|last4=Löwe|first4=Bernd|title=A Brief Measure for Assessing Generalized Anxiety Disorder|journal=Archives of Internal Medicine|volume=166|issue=10|year=2006|pages=1092–7|issn=0003-9926|doi=10.1001/archinte.166.10.1092|pmid=16717171|doi-access=}} the Job Content{{cite journal | last1 = Karasek | first1 = R. |display-authors=et al | year = 1998 | title = The Job Content Questionnaire (JCQ): an instrument for internationally comparative assessments of psychosocial job characteristics | journal = Journal of Occupational Health Psychology | volume = 3 | issue = 4| pages = 322–355 | doi=10.1037/1076-8998.3.4.322| pmid = 9805280 }} 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. Following initial phone contact, participants were invited to come to the assessment site and sign a consent form. They were asked to complete a self-administered demographic and lifestyle questionnaire and an interviewer-administered health questionnaire. A genealogical questionnaire was also included{{Cite web|url=http://www.quebecgenpop.ca/BALfichier_en.html|title=QRS - BALSAC|website=www.quebecgenpop.ca|access-date=2019-08-12|archive-date=2016-03-03|archive-url=https://web.archive.org/web/20160303211315/http://www.quebecgenpop.ca/BALfichier_en.html}} for completion online. Non-invasive measurements were taken that included basic measurements such as weight, height, and blood pressure. Blood, saliva and urine were collected and preserved at the Biobanque Génome Québec and the affiliated University Hospital Center in Chicoutimi (Biobanque GQ-CAURC{{Cite web |url=http://www.genomequebec.com/en/gq-caurc-bionbank.html |title=GénomeQuébec | GQ-CAURC Biobank |access-date=2013-04-03 |archive-url=https://web.archive.org/web/20130814113633/http://www.genomequebec.com/en/gq-caurc-bionbank.html |archive-date=2013-08-14 }}) for future use. Surveys about nutrition are also included and residential information, occupational history and food frequency data questionnaires are administered. 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.{{Cite web | url=https://portal.partnershipfortomorrow.ca/ | title=CanPath Portal | access-date=2024-04-21}}

CARTaGENE complies with local, national, international laws and ethical norms. 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),{{cite web|title=Universal Declaration on Bioethics and Human Rights |work=UNESCO |url=http://unesdoc.unesco.org/images/0014/001461/146180E.pdf|year=2006}} 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),{{cite web|title=Plan d'action ministériel en éthique de la recherche et en intégrité scientifique|work=ethique.msss.gouv.qc.ca|publisher=msss|url=http://ethique.msss.gouv.qc.ca/site/download.php?c6d3e3200feeca4c50623083af406127|year=1998}} the "Guide d'élaboration de normes de gestion des banques de données" from the MSSS (2004){{cite web|title=Guide de normes de gestion des banques de données|work=msss.gouv.qc.ca|publisher=MSSS|url=http://publications.msss.gouv.qc.ca/acrobat/f/documentation/2012/12-727-02W.pdf}} and the "Politique de la recherche avec des êtres humains"{{cite web|title=Éthique de la recherche avec des êtres humains |work=Le Groupe consultatif interagences en éthique de la recherche |access-date=3 April 2013|url=http://ethique.gc.ca/pdf/fra/eptc2/EPTC_2_FINALE_Web.pdf |archive-url=https://web.archive.org/web/20131120155640/http://ethique.gc.ca/pdf/fra/eptc2/EPTC_2_FINALE_Web.pdf |archive-date=2013-11-20 |language=fr}} (2004), among others.

CARTaGENE is monitored by the research ethics Board of the Sainte-Justine University Health Center. It is also under the supervision of the Information Access Commission (the CAI{{Cite web | url=http://www.cai.gouv.qc.ca | title=Commission d'accès à l'information du Québec |}}). 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.

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. 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.

Researchers can request access to the CARTaGENE data through the Canadian Partnership for Tomorrow Project Portal. Researchers must submit an application and undergo evaluation by an independent Sample and Data Access Committee (SDAC). The dataset is available to researchers in industry and academic institutions. Applications detailing their project proposal are a requirement for review by an independent committee, the Sample and Data Access Committee (SDAC). 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.

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

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.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). 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). CPTP has recruited over 300,000 participants to create a databank on Canadian health.{{Cite journal | doi = 10.1503/cmaj.091540| title = The Canadian Partnership for Tomorrow Project: Building a pan-Canadian research platform for disease prevention| journal = Canadian Medical Association Journal| volume = 182| issue = 11| pages = 1197–1201| year = 2010| last1 = Borugian | first1 = M. J.| last2 = Robson | first2 = P.| last3 = Fortier | first3 = I.| last4 = Parker | first4 = L.| last5 = McLaughlin | first5 = J.| last6 = Knoppers | first6 = B. M.| last7 = Bedard | first7 = K.| last8 = Gallagher | first8 = R. P.| last9 = Sinclair | first9 = S.| last10 = Ferretti | first10 = V.| last11 = Whelan | first11 = H.| last12 = Hoskin | first12 = D.| last13 = Potter | first13 = J. D. | pmid=20421354 | pmc=2917932}}

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

Local and national media have reported on CARTaGENE.

• La Presse/La Presse Canadienne, Lia Levesque (15 January 2013) « Un ratio «inquiétant» de Québécois ont une maladie chronique à leur insu »{{Cite web|url=https://www.lapresse.ca/|title=LaPresse.ca {{!}} Actualités et Infos au Québec et dans le monde|website=La Presse|language=fr|access-date=2019-08-26}}
• Le Soleil, Jean François Cliche (15 January 2013) « Projet Cartagène: jusqu'à un Québécois sur deux malade sans le savoir »{{Cite web|url=https://www.lapresse.ca/|title=LaPresse.ca {{!}} Actualités et Infos au Québec et dans le monde|website=La Presse|language=fr|access-date=2019-08-12}}
• Le Droit/La Presse Canadienne, Lia Levesque (January 2013) « Des Québécois atteints de maladies chroniques sans le savoir »
• La Tribune/La Presse Canadienne, Lia Levesque (14 January 2013) « Des Québécois atteints de maladies chroniques sans le savoir »{{Cite web | author=Levesque, L. | publisher=La Tribune | url=http://www.lapresse.ca | year=2013 | title=Les Québécois atteints de maladies chroniques sans le savoir | language=fr}}
• Le Devoir, Pauline Gravel (15 January 2013) « Cartagène commence à porter ses fruits »{{Cite web|url=https://www.ledevoir.com/|title=Le Devoir {{!}} Nouvelles, actualités, politique, culture et chroniques|website=www.ledevoir.com|language=fr|access-date=2019-08-12}}
• The Gazette, Charlie Fidelman (15 January 2013). Quebec's CARTaGene genetic study shows "huge portion" of population unaware of chronic diseases.Fidelman, C. (The Montreal Gazette, 2013).
• The Ottawa Citizen, Charlie Fidelman (15 January 2013). Quebec's CARTaGene genetic study shows "huge portion" of population unaware of chronic diseases.
• Le Devoir, Pauline Gravel (18 January 2013) « Données génétiques - La biobanque Cartagène est hautement sécurisée »Gravel, P. in Le Devoir (2013).

• Radio-Canada TV, Catherine Kovacks (14 January 2013) « Cartagène à la recherche de volontaires »Radio-Canada.ca, T. (Radio-Canada, 2013).
• CBC News Montreal Late, Nancy Woods (14 January 2013) Montreal Late 12:28{{Cite web | title=CBC News: Montreal Late Night | url=http://www.cbc.ca/player/News/Canada/Montreal/ID/2325600354/ | year=2013 | archive-url=https://archive.today/20130628045012/http://www.cbc.ca/player/News/Canada/Montreal/ID/2325600354/ | archive-date=2013-06-28}}

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Category:Biobanks