Sin ttulo de diapositiva

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Fernando Martín Sánchez, PhD. Head, Medical
Bioinformatics Dept. Institute of Health Carlos
III Madrid, SPAIN Results of the EC IST
BIOINFOMED study A Research Agenda in
Biomedical Informatics
Workshop on Biomedical Informatics Brussels March
18, 2004
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Outline

• Genomic medicine
• The BIOINFOMED Study
• A research agenda
• Consolidating BMI
• Current developments

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Genomic Medicine
Human Genetic Variation
Technologies
Data
Genomic medicine
Applications
Information
Diagnosis Pharmaco-genetics
Individual genomics (SNPs and mutations)
Individualised healthcare
Genomic
BIOMEDICAL INFORMATICS
Functional genomics Proteomics
Disease reclassification Pharmaco-genomics
Gene Expression DNA arrays MS, 2D ef
Clinical
Molecular medicine
Technologies
Data
Applications
Preventive medicine
Molecular causes of diseases
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Synergy between Research inMedical Informatics,
Bio-Informatics and Neuro-Informatics
Knowledge empoweringIndividualised Healthcare
and Well-Being
14 December 2001Pyramids, Place Rogier, Brussels
European Commission DG-Information Society, DG
Research www.ramit.be
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BIOINFOMED

• Prospective Analysis on the Relationships and
  Synergy between Medical Informatics and
  Bioinformatics (March 2002-Feb 2003)
• URL http//bioinfomed.isciii.es
• Institute of Health Carlos III Madrid SPAIN
  (Coordinator)
• Polytechnical University of Madrid (Prof. Victor
  Maojo) - SPAIN
• Linköping University (Prof. Ankica Babic) -
  SWEDEN

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The BIOINFOMED Study

• 30 experts were invited to collaborate with the
  group carrying out the project in the elaboration
  of a White Paper.
• Questionnaire and bibliographic review
• Working meetings were held in FORTH (Crete,
  Greece) in June and Valencia, Spain, in November
  2002
• BIOINFOMED web page - (agenda, links to research
  groups, relevant publications).
• Papers to disseminate the work done under this
  project (MIM, JBI, JAMIA).

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Structure for the White Paper

• Rationale
• Background
• History of MI and BI
• Current situation
• Scope and vision
• Expected impacts
• Gaps and Bridging Solutions
• Priorities in RD

http//bioinfomed.isciii.es
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Translational Research Informatics
Clinical Trials, EHRs
Genetic factors
Clinical Research
Basic Research
Biomedical Informatics
Epidemiological Research
Environmental factors
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Populations
Genome epidemiology
Public Health Informatics
Molecules, cells
Diseases
BIOMEDICAL INFORMATICS
Clinical Informatics
Bioinformatics
Tissues, organs
Patients
Medical Imaging
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Biomedical Informatics

• Biomedical Informatics (BMI) is the discipline
  that aims to create a common conceptual
  information space to further the discovery of
  novel diagnostic and therapeutic methods in the
  rapidly evolving arena of genomic medicine.
• The BIOINFOMED White Paper

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Human Phenome Project?
Biomedical Informatics
Human Genome Project
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BI in support of Personalized Medicine Patient
Genetic Data and EHRs

• New models of EHRs that include structured
  patient genetic data.

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BI in support of Personalized Medicine Guidelines
and decision making support systems

• Clinical guidelines are standard means for
  dissemination of clinical knowledge and the
  support of physicians in the course of
  decision-making.
• Using genetic knowledge can further improve
  decision-making quality.

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MI in support of Genomic ResearchHuman phenotype
databases

• Providing research-quality clinical samples and
  associated information in highly optimized
  formats to functional genomics researchers
• Representing phenotype information in a
  structured, computable manner
• The Human Phenome Project

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BMI in support of Genomic MedicineAcquiring
patient data (clinical and genetic) at the point
of care.

• New analytical devices (biochips or
  lab-on-a-chip).
• Offer the possibility of accessing patients
  genetic profiles within reasonable time and
  expenses
• General practitioners will need to access other
  complementary data and place them in context

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BMI in support of Genomic Medicine Supporting
PGx research

• Stratified clinical trials
• New targets
• There exists excellent opportunity to merge
  fields such as bioinformatics/ cheminformatics,
  protein and DNA microarray technology with
  medical informatics in preclinical and clinical
  toxicity, patient typing and stratification.

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BMI in support of Genomic Medicine Molecular and
functional imaging

• Developing novel tools, reagents and methods to
  image specific molecular pathways in humans,
  particularly those that are key targets in
  disease processes.
• Visualisization of gene expression in vivo

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BMI in support of Genomic Medicine Modeling and
simulation

• Integrated 3-D models of the body, including
  mapping from genes to clinical findings.
• Combining two approaches
• bottom-up, from molecules to clinical
  manifestations, or
• top-down, from clinical manifestations to inner
  mechanisms.
• Realistic, predictive models of disease under
  different genetic and environmental conditions.

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BMI in support of Genomic Medicine Genome
Epidemiology biobanks

• Large-scale epidemiological studies linking
  genetic information to information on
  environment, lifestyles and disease outcomes
• Tissue and samples databases

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Consolidating BMI
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INDIVIDUAL BIOMEDICAL INFORMATICS FELLOWSHIPS
RELEASE DATE February 12, 2003 PA NUMBER
PAR-03-070 EXPIRATION DATE March 01, 2006,
unless reissued. National Library of Medicine
(NLM) (http//www.nlm.nih.gov/) This program
announcement supersedes PA-92-90.
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Current developments in BMI
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Genetic data in EMR

• US Patent Application 20030104470
• June 5, 2003
• EMR, library of EMRs having polymorphism data,
  and computer systems and methods for use thereof
• Claims prescription, drug reaction, diagnostic
  data, different pathologies, different detection
  assays, different physical locations for the EHR

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HL7 Clinical Genomics SIG

• Use of genomic data in health care in support of
  personalized medicine
• Integration of healthcare standards along with
  bioinformatics emerging formats such as MAGE-ML
  for gene expression or BSML for sequencing data.
• Submission to EHR functional model?
• Cystic-Fibrosis testing
• Tissue-Typing for Bone-Marrow Transplantation
• BRCA 1, 2

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PhenoFocushttp//www.phenofocus.net/

• Open collection of researchers interested in
  developing optimal public-domain solutions for
  computational handling of phenotype data.
• Representing Phenotypes The Challenges
• Current Projects Needing Better Solutions
• Data Models Being Explored
• Flybase, HGVbase, E-A-Value triplets,
  MetaDataModel Organism Database Network
• Ontologies
• GO, UMLS, SNoMed, eVOC, LOINC
• Data Exchange Formats
• Standardization (OMG)
• (Semi) Automated Text Mining
• Data Sharing Issues / Intellectual Property
• Related Projects and Societies

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MGED-TOX WG

• EMBL-EBI, NIEHS and ILSI HESI
• MIAME-Tox
• Tox-MIAMEXPRESS
• A database for toxicogenomic gene expression data
• Including clinical observations, histopathology
  evaluation and clinical pathology

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Integrating biomedical terminology
Bodenreider O, Nucleic Acids Research, 2004, Vol.
32, Database issue D267-D270
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Genotype (HL7 CG SIG)
Bioinformatics
Medical Informatics
Biomedical Informatics
(P3G)
Phenotype - PhenoFocus - MIAME-TOX
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Thank you all! - experts - EC staff - ISCIII
team - Audience fmartin_at_isciii.es
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Atocha Train Station, Madrid
A thought of solidarity with the victims and a
wish for PEACE...