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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
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
