Overview of the situation regarding research...
Transcript of Overview of the situation regarding research...
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 !