Overview of the situation regarding research biobanks

Milan Macek

CoE Sympoium on biobanks and research on biological materials of human origin

Strasbourg, June 19-20 / 2012

Medicine is a science of uncertainty

and an art of probability.

William Osler

Current medicine is based on Oslerian clinico-pathological

correlations i.e. linking clinical presentations with

pathological findings „reductionist parsimony“

Useful before, but oversimplification and overgeneralisation

- Does not take into account susceptibility states

- Preclincal forms of the disease

- Does not individualise disease diagnosis of therapy

We construct nosological silos that focus on endstage

pathological processes in a single organ looking

at generic mechanisms (e.g inflammation)

rather than true disease specific

determinants in a system-based complexity

Hierarchical classification WHO/Orphanet/Diseasome/

Human Phenotype Ontology

„Mind the GAP!“

Number of facts

per clinical decision

is increasing

www.ncbi.nlm.nih.gov/books/NBK52819/

Sequencing of the human genome - new

technologies „omics“ -> biobanking

ftp.jrc.es/EURdoc/JRC57831.pdf

www.time.com/time/specials/packages/completelist/

0,29569,1884779,00.html;

GWAS, molecular epidemiology

www.ncbi.nlm.nih.gov/books/NBK52819/

Asslaber & Zatloukal; www.ncbi.nlm.nih.gov/pubmed/17916592

HGRDs

Current medical / societal challenges

Biobank heterogeneity and major formats of organised biospecimen collections

Asslaber & Zatloukal; www.ncbi.nlm.nih.gov/pubmed/17916592

1/ collection and storage of annotated human bodily specimen (medical,

epidemiological, occupantional data), 2/ continuous, 3/ coding / anonymisation,

4/ reidentification, 5/ Reidentification, 6/ Governance (Sessions 2-4)

4% of the general population UK Biobank 500 000 donors – 0.8%

Population Biobanks large scale, prospective, longitudinal mol. epidemiology

www.p3g.org; www.p3gobservatory.org

Disease versus Normal Tissues: Systems Biology

www.p3g.org; www.p3gobservatory.org/

http://wyvern.ndcls.ox.ac.uk/orb/about_overview.html

From „stand alone collections at univ. hospitals to „under one roof“ concepts

Clinical research

Guthrie Cards, cord blood, stem cells ->

regenerative therapies

PKU „registry“

2.7 mil. GCs (38Y)

www.biobanks.se/ www.cordbloodbank.co.uk

www.ukstemcellbank.org.uk/

Clinical trials: collection of samples ->

beyond the trial itself (biomarkers)

www.quintiles.com, www.iconplc.com

Biobanks are crucial for drug development

Disease oriented biobanks

(mol. mechanisms)

Population based

(genetic associations)

Tissue banks -small

(affected x healthy)

Tissue banks-large

(clinical trial design)

Biospecimens,

Fluids, control

cohorts

Tissues, bodily, fluids,

Cells

(clinical tria,s

„companion dg.“) Tissue banks-

(validation in animal

models )

Successful Biomarkers

Drug development attrition

www.ncbi.nlm.nih.gov/pubmed/21587251

www.bbmri.eu

Biobanking and Biomolecular Resources Research Infrastructure

www.bbmri.eu

www.bbmriportal.eu; www.ncbi.nlm.

nih.gov/pubmed/17959611;

ftp.irc.es/EURdoc/JRC57831.pdf

Biobanking activities in Europe, and beyond

ITFoM has the ambitious goal of bringing

together medicine and state-of-the-art

diagnostic techniques such as medical

imaging and functional genomics, virtual

patient models and new… tools

ITFoM – The IT Future of Medicine „Virtual patient“

From May 2011

Pilot project

2012 € 1B bid !

www.itfom.eu

Thank you for your attention !

Milan.Macek.Jr@LFmotol.cuni.cz