The Italian Task Force Stefania Boccia and Walter Ricciardi Instituteof Hygieneand Preventive Medicine Università Cattolica del Sacro Cuore, Rome, Italy
The kick-off meeting on July 2006-I A press communicate was released on Il Sole 24 Ore Sanità (popular newspaper focused on Health)
The kick-off meeting on July 2006-II La Task Force Italiana di Genomica in Sanità Pubblica (ITF-PHGEN) Coordinatori.: Stefania Boccia e Walter Ricciardi Istituto di Igiene, Università Cattolica Sacro Cuore, Roma To divulgate the initiative we builded- up a poster used at the National Conferences of the Italian Societies of Hygiene and Preventive Medicine and Human Genetics in 2006 La Genomica in Sanità Pubblica è il trasferimento responsabile ed effettivo delle conoscenze e tecnologie basate sul genoma nelle politiche e nei servizi di Sanità Pubblica per il beneficio della salute delle popolazioni - Bellagio Statement 2005 Il Network Europeo di PHGEN (EU Project: 2005313) Community action in the field of Public Health (2003-2006), Work plan 2005; January 1 st 2006 December 31 st 2008 http://www.phgen.nrw.de/index.html Scopi del Network Europeo: -Assessment (2006): identificazione degli esperti chiave e delle istituzioni rilevanti per la genomica in Sanità Pubblica nei Paesi partecipanti -Policy Development (2007): identificazione dei problemi e delle priorità della genomica in Sanità Pubblica in Europa; contribuire alla creazione di linee guida per i test genetici -Assurance (2008): raccolta delle evidenze sul Rischio Attribuibile di Popolazione per le più importanti malattie complesse associate a varianti genetiche note, ipotizzando l impatto di potenziali programmi di prevenzione Partecipanti: 88 esperti provenienti da 34 diversi Paesi Europei ed Extracomunitari tra cui unici rappresentanti italiani per la Sanità Pubblica il Prof W. Ricciardi e La Dr.ssa S. Boccia Coordinatori: - Public Health Genetics Unit- Cambridge (Prof. R. Zimmern) - German Center for Public Health Genomics- Bielefeld (Prof.A. Brand) - Institute of Public Health- Bielefeld (Prof. H. Brand) Networks Istituzioni La ITF-PHGEN Framework italiano: - Necessità di integrare a livello nazionale la Genomica in politiche e pratiche di Sanità Pubblica - Creazione di infrastrutture e gruppi di lavoro finanziabili dalla autorità competenti A tal scopo - Il 10 luglio 2006 è stata creata la prima ITF-PGHEN composta da esperti di Sanità Pubblica, Genetica Umana, Health Technology Assessment (HTA), Scienze Mediche di base, Scienze Politiche e Sociali (dettagli nel riquadro in basso a destra) I cui primi obiettivi: - Implementare attività formative all interno delle Società Scientifiche di Igiene (SItI) e Genetica Umana (SIGU) - Sviluppare un modello di valutazione evidence- based sulla appropriatezza della erogazione dei test genetici, nell ottica di un loro peso sempre più importante sulla spesa sanitaria nazionale CASE NuGO PHGEN è un network di networks e istituzioni EPIC EUnet HTA P 3 G Euro Gentest orphanet GRAPH Int PHGEN PHGU OGDP at CDC SAFH at IPTS WHO AETMIS IARC UNESCO OECD Da: http://www.phgen.nrw.de/typo3/index.php?id=53 July, 10th 2006 NTF Italy has met in Rome for the first time: FIRST MEETING of the ITALIAN PHGEN NATIONAL TASK FORCE (NTF) Participants: 1. Prof. W. Ricciardi (Head of the Institute of Hygiene, Catholic University of Sacred Heart-UCSC, Rome) 2. Dr. Stefania Boccia (Institute of Hygiene, UCSC, Rome) 3. Prof. Paolo Villari (Hygiene Section- Department of Experimental Medicine and Pathology, University La Sapienza, Rome) 4. Prof. Alberto Izzotti (Hygiene Section, University of Genoa) 5. Prof. Elisa Calzolari (Head of the Genetics Institute, University of Ferrara) 6. Prof. Giovanni Neri (Head of the Human Genetics Institute, UCSC, Rome 7. Dr. Franca Dagna Bricarelli (President of Italian Society of Human Genetics and Head of Laboratory of Medical Genetics, Hospital Galliera, Genoa) 8. Dr. Domenico Coviello (Head of Laboratory of Medical Genetics, Hospital Maggiore Policlinico, Mangiagalli e Regina Elena- IRCCS, Milan) 9. Dr. Anna Baroncini (Head of Medical Genetics Service, AUSL Imola) 10. Dr. Laura Murianni (Institute of Hygiene, UCSC, Rome) 11. Dr. Francesco Gianfagna (Institute of Hygiene, UCSC, Rome) Guests: Prof. Angela Brand (Public Health Genomics European Network, Bielefeld) Dr. Helmut Brand (Public Health Genomics European Network, Bielefeld) Ulteriori informazioni: Dr. Stefania Boccia Istituto di Igiene (Dir.: Prof. W. Ricciardi), Università Cattolica Sacro Cuore, Roma. Tel.: 00 39 06 35001527; Fax: 00 39 35001522; e-mail: sboccia@rm.unicatt.it
For a broader diffusion
Italian PHGEN-TF current activities At national level Commission for Genetics inside the NHS Application for funds to the Minister of University and Research At international level Application for a Marie Curie initial training network
The Comission for Genetics-I On July 2007 the Minister of Health called for the creation of a Commission for Genetics inside the NHS (1-year)- 4 components of the ITF are inside Tasks - To verify that Italian Guidelines of 2004 concerning the activities of Medical Genetics Services have been acknowledged by the regions (with local resolutions) - To set up rules on the publicity and promotion of genomic tests
The Comission for Genetics-II Additional tasks of the Commission - Define set of indicators for a proper definition of the genomic tests to be provided inside the LEA - To carry out an evaluation of the economic impact of the genomic tests provided in all italians region (past 4 years)
Genetic testing in Italy-I Dallapiccola et al, 2006
Genetic testing in Italy-II Dallapiccola et al, 2006
Applications for funds Minister of University and Research: Programme of National Interest 2007-8 Multicenter project in collaboration with Geneticians, Health Care providers, Epidemiologists, Genetic Epidemiologists, Molecular Biologists and Economists Project concerning the evaluation of the appropriateness of genetic testing (MTHFR, FV Leiden, F II) for the susceptibility to venous thromboembolism in high-risk individuals
Specific objectives of the project 1. Describe the current scenario of genetic testing for susceptibility to VTE and deliver strategies for the implementation of good practice; 2. Evaluate the analytical validity of the current techniques for polymorphisms genotyping, and the transferability from research to clinic of wide-genome scan platforms with special attention to genetic tests for VTE; 3. Evaluate the clinical validity of genetic screening for genes whose variants are associated with VTE (Factor V Leiden, MTHFR and Factor II) by quantifying the gene-disease association through systematic review and meta-analyses of the literature; 4. Evaluate the clinical utility of the aforementioned three genetic tests in predicting VTE susceptibility through systematic search of the existing clinical guidelines, meta-analyses and primary studies concerning efficacy, effectiveness and safety of health interventions to reduce mortality/morbidity of VTE with and without genetic testing; 5. Perform a cost-effectiveness analysis on the genetic screening for the three gene variants in populations already considered at high risk of VTE (e.g., woman with recurrent abortion; patients undergoing major surgery; individuals with a family history of VTE) in the management of the most appropriate anticoagulant prophylaxis. 6. Drafting the final report of the overall project regarding the Health Technology Assessment of the three genetic tests for the management of the inherited susceptibility to VTE, that should implement this lack of knowledge. This will be translated into recommendations based on the criteria of efficacy, effectiveness and cost-effectiveness, allowing to an evidence-based transfer into the clinical practice of genetic testing for VTE.
Public Health Genomics European Training (PHGET) Project inside the Marie Curie action, aim: to improve the career prespective of researchers who are in their first 5-years of their research career in both public and private sector by a training through research programme in Public Health Genomics Destinatary: young or experienced reserchers devoted to trans-national mobility Lenght: max 4-years training