Workshop 7 - Brainstorming & Policy Development session: Prevention "EUROCAT Study on Prevention of Congenital Anomalies" Dr. Domenica Taruscio, ISS Italy

1. EUROCAT STUDY ON PREVENTION OF CONGENITAL ANOMALIES Domenica Taruscio Director of the National Centrefor Rare Diseases Istituto Superiore di Sanità Roma, Italy EUROCAT WP7 Coordinator MEMBERSHIP MEETING 2011 AMSTERDAM – 13 & 14 MAY

2. European Surveillance of Congenital Anomalies Supported by the EU Public Health Programme WHO Collaborating Centre for the Epidemiological Surveillance of Congenital Anomalies

3. EUROCAT website - http://www.eurocat-network.eu/

5. Introduction

6. EUROCAT Objectives Provide essential epidemiologic information on congenital anomalies in Europe Co-ordinate the establishment of new registries throughout Europe collecting comparable, standardised data Co-ordinate the detection and response to clusters and early warning of teratogenic exposures

7. Why is EUROCAT important for preconception care? To provide surveillance on congenital anomalies in Europe. Evaluation of effectiveness of primary prevention regarding congenital anomalies Expert group with focus on NTD and folic acid

8. Joint Action Main Partner:University of Ulster - EUROCAT Central Registry Partners:34 Associated Partner 10 Collaborating Partners Starting Date*:January 2011 Duration (in months)*:36 General Objective:To facilitate the reduction of the public health burden of congenital anomalies by epidemiological surveillance through the EUROCAT network of population-based congenital anomaly registers. Workpackages: 9 Funding:1.1 million euros from EU, 2.2 million euros contributed

9. Joint Action EUROCAT Primaryprevention: Work Package 7 Horizontal Work Packages Core Work Packages WP LEADER: ISS - CNMR

10. How does the “Joint Action” funding mode differ from previous projects? Emphasises sustainability over novelty Recognises need for EU funding to sustain an EU system Formally recognises Member State commitment to the EUROCAT, financially and in terms of MS needs Decentralises EUROCAT further Takes us beyond “epidemiologic surveillance” to MS policy impact via Rare Diseases policy e.g. Primary Preventionworkpackage

12. Italy Campania

13. Italy Tuscany - IFC-CNR

14. Italy Emilia Romagna – IMER

15. Italy – ISS (Work Package Leader)

16. Croatia, Zagreb – KDB

17. Malta - MCAR DHIR

18. Poland - PUMS

19. France, Strasbourg - UDS

20. NetherllandsRegistry - UMCG

21. Slovenia - UMCL

22. Hungary - NCHAI

24. BD PRIMARY PREVENTION EFFORTS INCLUDE EUROCAT JA WP7 BD SECONDARY PREVENTION EFFORTS INCLUDE BD TERTIARY PREVENTION EFFORTS INCLUDE

25. CAUSES OF BIRTH DEFECTS Primarypreventionpossible

26. WP7: PrimaryPreventionofCongenitalAnomalies WP7 will assess the feasibility and process for considering primary prevention as an important part of national plans/strategies of EU Member States for rare diseases, with support of EUROPLAN (www.europlanproject.eu) The objective is to build a consensus approach on the inclusion of targeted primary prevention actions within national plans/strategies

27. WP7: PrimaryPreventionofCongenitalAnomalies To achieve this goal, WP7 will develop two major activities: A) To collect and review public health actions relevant to primary prevention of birth defects The actions on prevention of neural tube defects (NTD) by raising folic acid status will be considered in detail as a modelfor the actual development of a consensus approach.

28. A) To collect and review public health actions relevant to primary prevention of birth defects at level of: A.1 pre- and peri-conceptional care, namely: - folic acid supplementation/fortification; - maternal lifestyles: smoking, alcohol, recreational drugs; - counselling on, and management of chronic maternal conditions (epilepsy, diabetes, obesity, etc.) - use of drugs and health-promoting products (including dietetic or herbal products, etc.) in collaboration with WP9; - genetic counselling in collaboration with WP8;

30. B) The actions on prevention of neural tube defects (NTD) by raising folic acid status will be considered in detail as a model for the actual development of a consensus approach. This will be performed by: B.1 updated survey of policies in MS B.2 track prevalence rates of NTD through the registries B.3 approaches to assess knowledge and attitude toward folic acid of women in childbearing age B.4 appraisal of strategies to monitor population folate status.

31. 6.3.2 Specific objectives of this Work Package 6.3.3 List of deliverable(s) linked to this Work Package 6.3.4 Milestone reached by this WP

32. Report on Periconceptional Folic Acid Supplementation for Italy Edited and co-ordinated by Amanda J. Neville Thisdocumentwasprepared and approvedby the ScientificCommitteeof the Italian Network forFolic Acid Promotion for the primarypreventionof birth defects and the ItalianRegistersofCongenitalMalformations Sebastiano Bianca, Fabrizio Bianchi, Anna Maria Castellazzi, Elisa Calzolari, Francesco Giorgino Libero, Alberto Mantovani, Stefania Ruggeri, Gioacchino Scarano, Gianfranco Tarsitani, Domenica Taruscio, Romano Tenconi, Giuseppe Ugolini Pag 92-100 del Report

33. NCRD HAS BEEN WORKING FOR MANY YEARS IN NATIONAL AND INTERNATIONAL ACTIVITIES FOR BD PREVENTION 2002 - Meeting ISS-WHO “Folic acid: fromresearchto public healthpractice” 2004 - Rapporto ISTISAN 04/26 Folic acid: fromresearchto public healthpractice Editedby D. Taruscio Since 2004 - Establishment and coordination of “Italian Network for Folic Acid Promotion” To promote, coordinate and bring to the attention of the public actions in favour of a greater intake of folic acid in the periconceptional period 2009 - ESCO Report on Analysis of Risks and Benefits of Fortification of Food with Folic Acid Question No EFSA-Q-2008-383; Issued on 6th October 2009 2009 - EFSA meeting summary report FOLIC ACID: AN UPDATE ON SCIENTIFIC DEVELOPMENTS Question No EFSA-Q-2009-00415 ISSN 1725-9843; 21-22 January 2009, Uppsala, Sweden 2010- “Public consultation on the EFSA draft guidance on human health risk-benefitassessmentoffoods”(EFSA Journal 2010; 8(7):1674 http://www.efsa.europa.eu/en/scdocs/scdoc/1674.htm)

34. … RECOMMENDS THAT MEMBER STATES: Elaborate and adopt a plan or strategyassoonaspossible, preferablyby the end of 2013 at the latest Takeactionto integrate current and future initiatives at local, regional and nationallevelsintotheirplans or strategiesfor a comprehensiveapproach Define a limitednumberofpriorityactionswithintheirplans or strategy,withobjectivs and follow-up mechanisms Take note of the developmentofguidelines and recommendationsof the ongoingeuropean project EUROPLAN

35. www.europlanproject.eu

36. Thanksforyourattention domenica.taruscio@iss.it