Nessun titolo diapositiva

1
POST-GENOME ERA
FUNCTIONAL GENOMICS Gene expression
TRANSCRIPTOME PROTEOME METABOLOME
RNA Expression SNP Dynamic protein structure
cDNA-RNA Microarray
LINKAGE ANALYSIS
Protein chips-MS BioInformatics Peptide
Ma Finger-printing
2
FUNCTIONAL GENOMICS PROTEOMICS METABOLOMICS
Functional PROTEO-METABOLOMICS
INCIPIT
STOP
Functional GENOMICS
IN PROGRESS
DIAGNOSTIC STRATEGIES

• NORMALIZATION
• Precision
• Accuracy
• Reproduction
• Uncertainty intervals
• Biological Significance

QUALITY of SYSTEM SYSTEMS QUALITY
! NO! Evidence- Based Science
3
POLIGENIC DISEASE
POLIGENIC DISEASE
INDIVIDUAL-COLLECTIVE RISK
NEW MEDICINE PARADIGM
MOLECULAR TAXONOMY PHARMACO- GENO- PROTEOMICS PO
SITIVE ETHICS
ETHNOS ENVIRONMENT LIFE-STYLE
PROMETHEAN OMNIPOTENCE TEMPTATION GENETIC DETERMI
NISM
NEGATIVE ETHICS
4
UNCERTAINTY and POST-MODERNITY
MEDICINE SCIENCE of RISK
UNCERTAINTY Mimesis of SCIENTIFIC ART
CHAOS DOMAIN Etiological Factors
Exogenous-Endogenous Mono-poli Necessary-In-Suffic
ient Exhaustible-Unfailing Statics-Dynamics Genomi
cs-Proteomics Anatomical-Physiological Pathologica
l Pre-existent- Contemporaneous- Consecutive Exclu
sive-Adverse PATHOGENESIS Mono-Pluri-determined
DISEASE A-Symptomatic Known-Unknown Expectable-For
eseeable Etiological-Symptomatic
Therapy
DESCRIPTIVE METHODS Casuistic Statistical Connecti
ve Logical Formal
POSSIBILITY CRITERION
MEDICINE FORENSIC MEDICINE ART
Founded ETHICS ERROR RESEARCH HIPPOCRATIC
OATH in Third MILLENIUM
Subordinate LEGAL SCIENCE Beyond all reasonable
doubt
PROTECTION
5
JURIDICAL CONSTRUCTION of SCIENCE
VALIDITY as a function of AIM Principle of
CAUSALITY chains based on CORPUSCULARIAN
VISION MECHANICAL PHYSICS NEWTONS
MATHEMATICS Principle of ERROR RATE
and PROBABILITY SCIENCE of RISK GENERAL and
SPECIFIC CAUSALITY RULE Beyond all reasonable
doubt
6
AGAINST OMNIPOTENCE
ABSOLUTE RELATIVE SYSTEMATIC ACCIDENTAL PSEUDO AWA
RE
SCIENCECEMETERY of ERRORS
UNIVERSAL PRINCIPLES SPECIFIC ASSERTIONS
CERTAINTY CRISIS
NATURALISM Pre-Socratic PSYCHO-DYNAMISM Socratic
CAUSE CAUSAL CHAINS
INDUCTION-DEDUCTION CRITERIA
RATIONALISM Aristotelian EMPIRICISM Post-Renaiss
ance RATIONALISM Formal-Categorial Kantian
IDEALISM Platonic
Scholasticism St. Thomas Aquinas
POSITIVISM NEO-POSITIVISM PROBABILITY RELATIVIST
IC TRUTH SOPHISM POSSIBILITY
CRITERION UNCERTAINTY
CLASSIC LOGIC FREQUENTATIVE SUBJECTIVE
7
UNIVERSAL PRINCIPLES
UNESCO 2003
PROCESSING International Co-operation Scientific
Legislative
PRINCIPLES Dignity Equality Justice Solidarity
Diversity Genome- Persons Identity Ethics Con
sent Privacy
PROCEDURES Protection Collection Processing Stor
age Biological Samples Genetic
and Proteomic Human Data
Legislative Organization Member States
Establish- ment Control Follow-up
CDBI 2003
Quality of genetic services
Counselling
Testing
Predictive
On deceased persons
Screening
Research
Research
Protection of health
8
INTERNATIONAL LEGISLATIVE ORGANIZATION
EUROPE
UNITED STATES

• STATES
• WITHOUT
• SPECIFIC
• LAW
• DENMARK
• GERMANY
• GREECE
• IRELAND
• HOLLAND
• SPAIN

STATES WITH SPECIFIC LAW
AUSTRIA BELGIUM FINLAND FRANCE ICELAND NORWAY
PORTUGAL SWEDEN SWITZERLAND GREAT BRITAIN
ITALY (art.90 DLg n.196, 2003)
9
BIOMEDICAL RESEARCH ECONOMICS and PUBLIC
HEALTH PHYSICIAN RESPONSIBILITY
BIO-MEDICAL RESEARCH
PROTECTION
Public Property-Humanity Data sensitivity Interind
ividual impartiality Quality assurance
INDIVIDUAL
INTEREST PROTECTION
COUNSELLING
COLLECTIVE
ECONOMICS and PUBLIC HEALTH
LICENCING POLICY
EDUCATION TRAINING
GENETIC SERVICES
COMMUNITY
PHYSICIAN
KNOWLEDGE
PROTECTION
10
EVIDENCE AND QUALITY
EVIDENCE-BASED SCIENCE - MEDICINE
VERIFICATION
EVIDENCE CAUSE
META-ANALYSIS
ACCEPTANCE Scientific Community
ERROR RATE
PROBABILITY
QUALITY OF SYSTEM Systems Quality
11
PROFICIENCY TESTING PROGRAMS META-ANALYSIS 1989-20
03
12
PSYCHOACTIVE SUBSTANCES PROFICIENCY TESTING
PROGRAM 1999-2003 University of Padova
13
DRUGS of ABUSE QUALITY CONTROL PROGRAM EFFICIENCY
TREND University of Padova
14
LEGAL MEDICINE and FORENSIC SCIENCES ROLES-RESPON
SIBILITIES
DE JURE CONDENDO
JURIDICAL DOCTRINE
PROPOSAL
RESEARCH
PRINCIPLES-ORDERS Bioethical Normative and
Regulatory
STUDIES Ante - Post Mortem
15
BIOLAW
PLURALISTIC OPEN SYSTEM Multicultural Open State
Model Hard and Soft Law Principle of
publicity-transparency NORMATIVE MODEL Binomial
Legal Protection PRIVACY-DIGNITY
Free self-determination
Confidentiality
Insufficiency Principle of CONSENT BUT Protecti
on GENETIC INFORMATION
No! Art. 44 Italian Code Medical Deontology
Genome-Genetic diversity Birth Legitimatio
n Generations Present and Future
16
LEGAL MEDICINE and FORENSIC SCIENCES ROLES-RESPON
SIBILITIES
DE JURE CONDITO
Methodology-Criteriology
Assessment - Appraisal GUIDELINES
CONTRACTS
FORENSIC and MEDICAL RESPONSIBILITIES
Non-observance
Error
Ante
Post
Quality of System
Systems Quality
LMCT-EL
Institutional Strategy
17
PRIVATE INSURANCE and GENETIC DIAGNOSTICS
LIFE
DREAD DISEASE
LONG-TERM CARE
RISK ASSESSMENT
Mortality tables
Individual appraisal
Environment
Declaration
Employment
Medical Examination
CIRT-COINTRA
Clinical Bio-Chemical Instrumental Testing
STATISTICAL REMEDY
Genetic predictive testing
Premium balance

Anxious Disease- Depressive disorder
Individual- Collective dimension
No Actuarial calculation
18
INSURANCE COMPANIES ROLES-RESPONSIBILITIES
MORATORIUM Sine die
NO Genetic Diagnosis
RESEARCH DEVELOPMENT Data Normalization QUALIT
Y of SYSTEM
STATISTICAL REMEDY INSURANCE POLICIES
INCENTIVATION
Life Dread Disease Long-Term Care