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Dalla medicina tradizionale alla medicina dell ’ evidenza per giungere a quella personalizzata. Loreto Gesualdo UOC Nefrologia, Dialisi e Trapianto Azienda Ospedaliero-Universitaria Policlinico Università degli Studi di Bari. EXPERIENCE BASED MEDICINE. Patient / Doctor Empathy
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Dalla medicina tradizionale alla medicina dell’evidenza per giungere a quella personalizzata Loreto Gesualdo UOC Nefrologia, Dialisi e Trapianto Azienda Ospedaliero-Universitaria Policlinico Università degli Studi di Bari
EXPERIENCE BASED MEDICINE Patient/DoctorEmpathy Case History Semiotics p ? Accuracy Reproducibility
EXPERIENCE BASED MEDICINE Patient/DoctorEmpathy Case History Semiotics p ? Accuracy Reproducibility
What Is Personalized Medicine? “Personalized Medicine” refers to the tailoring of medical treatment to the individuals into subpopulations that differ in their susceptibility to a particular disease or their response to a specific treatment. Preventive or therapeutic interventions can then be concentrated on those who will benefit, sparing expense and side effects for those who will not. PMC 2010
>2100 2010 > 6800 papers
2010 2011 2012 >2100 >2900 >2500 >3300 > 11.000 papers
The “Omics” Era Transcriptomics Genomics Proteomics Metabolomics
Gene Structural and Comparative Genomics DNA Transcription Functional Genomics Transcriptomics (Gene Expression) RNA Translation Proteomics Protein Environment PTMs Metabolomics Biochemical Circuitry Phenotypes Systemic Biology Monarch butterfly The new lexicon of “…omics”
SYSTEMS BIOLOGY NETWORK IN PUGLIA REGION DEB Systems Biology Proteomics DETO CNR CARSO Transcriptomics Genomics and Metabolomics
RETE REGIONALEDI OMICA E BIOLOGIA DEI SISTEMI BIOBANCA E DATABASE CLINICO GENOMICA PROTEOMICA METABOLOMICA BIOLOGIA DEI SISTEMI
Renal Disease (Clinical Phase) Renal Disease (Pre-clinical Phase) How can we improve our understanding and treatment of renal diseases?
Typical Current Intervention Earliest Clinical Detection Baseline Risk Initiating Events Earliest Molecular Detection Tools Needed for Prediction and Personalized Care Monitor Progression Predict Events Inform Therapeutics Decision Support Tools: Predict/Diagnose Assess Risk Refine Assessment Cost 1/reversibility Disease Burden Time Baseline Risk Disease Initiation and Progression Preclinical Progression Dynamic Genomics: Gene Expression Proteomics Metabolomics Molecular Imaging Therapeutic Decision Support Stable Genomics: Single Nucleotide Polymorphisms (SNPs) Haplotype Mapping Gene Sequencing Sources of New Biomarkers:
Prospective Health Care Participating Population Late Chronic Cost 1/reversibility Disease Burden Early Chronic Low Risk High Risk Time Personalized Health Plan Personal Lifestyle Plan Disease Management Risk Modification Risk Assessment and Decision Support Tools
Toxicity (ADR) Non-Responders The Empirical strategy for Drug Therapy Patients with same diagnosis treated with the same medications Adverse Drug Reactions (ADRs) are the fourth leading cause of hospitalization, fifth leading cause of mortality in the USA
Sensitive (toxicity) Resistant (poor resp.) Relationship between Drug Dose and Response High _ _ _ _ _ _ _ _ _ _ _ _ _ _ _ _ _ _ _ _ _ _ _ Toxicity Response _ _ _ _ _ _ _ _ _ _ _ _ _ _ _ _ _ _ _ _ _ _ _ Efficacy Low Low Drug Dose High
Many factors influence drug delivery & response but inheritance can have a predominant effect ? Pharmaco- genetics E. Vessell, 1980s