The largest prospective healthstudy in Québec43 000 participants !

Is biobanking a smart investment ?

EBIC (2005-2008) Economic Burden of Illness in Canadahttp://www.phac-aspc.gc.ca/publicat/ebic-femc/2005-2008/assets/pdf/ebic-femc-2005-2008-eng.pdf

11.7

11.45.8

5.5

5.1

Direct costs in billion dollars

CardiovascularNeuropsychiatric Musculoskeletal Digestive Injuries

The Global Burden of Disease Study

The economic impact of disease

Source: CIHI

Demographic change in Canada

http://blog-epi.grants.cancer.gov/2013/04/15/combined-environmental-exposures/

HEALTH VS. DISEASEEXPOSOME

GENOME

Genes + Life Style + Environment = Health

Mandate   Provide a deeply phenotyped ressource of data and biosamples Strong expertise in epidemioloy, molecular biology, bioinformatics and drug development

  Reduce considerably research costs

Provide a fast, easy and open access

The CARTaGENE project

MissionTo facilitate scientific innovation and research projects, while ensuring the longitudinal mandate of the cohort

Open and fast access USE IT, IT’S YOURS

ACCESS@CARTAGENE.QC.CA

SDAC

2008 2009 2010 2011 2012 2013 2014 2015

Optimisation

Phase AEnvironment

Nutrition

Wave 2

Physical measures

Consent Open consent long-term engagement Right to withdraw

Sampling Based on Probability proportional to size (PPS) Random selection from the Health Insurance registry Men and women ages 40 to 69 living in one of six CMAs

20 000 22 000

The CARTaGENE project

> 300 000 participants Blood samples> 140 000 Physical measures> 90 000

$140 million invested

Go big or go home

Data and biosamples collected

Data and biosamples collected

DNA Extracted = 15 223 (done/upcoming in 2016)Genotyped ≈7500 (done/upcoming in 2016)

Illumina OMNI 2.5 array (1029) Affymetrix Axiom array (1000) Illumina OMNI express (2842) Illumina MEGA array (upcoming)

≈ 1000 RNA seq Gene Expression≈ 1000 Deep Sequencing – whole transcriptomic

CARTAGENE: COHORTE REPRÉSENTATIVE DE LA POPULATIONQuality control

Awadalla P., Boileau C., 2012

Chronic diseases in CaG cohort

Diabète

Désord

re thyro

idien

Hyperc

holestér

olémie

Hypert

ensio

nAngin

eAVC IM

Bronchite

chro

nique

Asthme

Insuffisan

ce rén

ale

Calculs r

énau

x

Infections r

énale

s

Ostéoart

hrite

Arthrite

rhumato

ide

Ostéoporo

se

Glaucome

Catarac

tes

Dégénére

scence

maculair

e

Cirhose

Hépati

te chro

nique

Cholecysti

te

Ulcère/

reflux a

cide

Syndrome c

ôlon irrita

blePolyp

e

Diverticu

lite

Maladie d

e Cro

hn

Eczém

a

Psoria

sis

Lupus éryt

hémate

ux diss

éminé

Dépres

sion m

ajeure

Épilep

sie

Migrain

e

Scléro

se en

plaques

Maladie d

e Park

inson

Schizo

phrénie

Cancer

s0

2000

4000

6000

8000

10000

12000

14000

Nom

bre

de p

artic

ipan

ts

Maladies Cardiométaboliques ~50%

Factor Analysis Revealed 6 major comorbidity clusters. Ward Hierarchical clustering for the 64 chronic conditions based on their respective factor loadings (Jean-Philippe Goulet, Bioinformatique)

Comorbidity in CaG cohort

Projects using CaG data and biosamples

GENOTYPING

LONGITUDINAL

CaG-FAMILY

ENVIRONMENT

CARTaGENEBIOBANKING

ACCESS SERVICEPROJECT MANAGEMENT

CURRENT AND FUTURE PLANS

Pan Canadian Sample of men and women

DNA methylation ≈ 2000 (upcoming in 2017)Histone Acetylation, ChIPseq ≈ 1000 (upcoming in 2017)

Pan Canadian Sample of men and women

Cytokines and adhesion molecules (TBD) ≈ 10,000 (upcoming in 2017)

Upcoming data from CARTaGENE and CPTP

CARTaGENE– The Canadian alliance for healthy hearts and minds

Recontact Project“$16 million investment in first of its kind Canadian chronic

disease research project”The Canadian Partnership Against Cancer (CPAC)

• 10 000 Canadians from existing cohorts (1500 CARTaGENE)

• Collect detailed information on vascular disease, cardiac disease, and cognitive function using MRI scans

• Evaluate the impact of different environmental determinants on Cardiovascular Health.

Quantitative data with 7 000 variables per participants

Prospective cohort

Harmonized data

Public infrastructure (open access) Accelerate personalized medicine

Take home message

FoundersClaude Laberge

Bartha Maria Knoppers

Scientific directors

Anne-Monique Nuyt

Sébastien Jacquemont

ExecutiveAlexandra Obadia-CEO

TeamCatherine Boileau – Epidemiology

Nolwenn Noisel – Operations

Joseph Tcherkezian-Access

Yves Payette – Data manager

Thibault de Maillard – Bioinformatics

Gabrielle Thauvette – Analyst

Geneviève David – Communications

Maria Barone – Human ressources and finance

Charles Rivard – Finance analyst