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The View from Europe Professor Helen Dolk EUROCAT Project Leader EUROCAT Central Registry, University of Ulster Annual BINOCAR Meeting, Swansea Cotober 2014 NORWAY Map of EUROCAT Full and Associate Member Registries UNITED KINGDOM Wessex Thames Valley E Mid & S York Northern England South West England Wales DENMARK Odense GERMANY Saxony-Anhalt Mainz POLAND Wielkopolska IRELAND Dublin South East Ireland Cork & Kerry UKRAINE BELGIUM Antwerp Hainaut-Namur Associate Member CZECH REPUBLIC FRANCE Paris Strasbourg Rhone-Alps Ile de la Reunion French West Indies HUNGARY AUSTRIA Styria Size of Circle < 10,000 births per year 10,000 - 40,000 births per year >40,000 births per year FINLAND NETHERLANDS Northern Netherlands Central Registry Belfast Full Member SWEDEN CROATIA Zagreb PORTUGAL South Portugal SWITZERLAND Vaud SPAIN Basque Country Valencia Region Spain Hospital Network ITALY Emilia Romagna Tuscany MALTA Why European Collaboration? • Pooling of data • Comparison of data between registries/countries • Sharing of expertise • Joint approach to European public health questions • Sharing of resources (e.g. website, software) History of EUROCAT • Conceived in 1974, at a Workshop convened by the European Economic Community's Committee on Medicinal and Public Health Research to improve "the methodology of population studies throughout the Community". Congenital anomalies chosen as first topic for concerted action. • EUROCAT established in 1979 as a prototype for European health surveillance aiming to assess the feasibility of pooling data across national boundaries, in terms of standardization of definitions, diagnosis and terminology and confidentiality. Central Registry in Department of Epidemiology, Catholic University of Louvain, Brussels. • Michel Lechat 1927-2014 Co-founder of EUROCAT with Josephine Weatherall Timeline 1979-2014 and beyond Continued: •Population-based registries •Central Database and standard dataset Creation • 1991 transfers from “Research” to “Health Information”. Central Registry at Scientific Institute for Public Health, Brussels. Central Registry moved briefly to LSHTM, UK in 1999. • 2000-2014 - Funded by EU DSanco as Rare Diseases activity, Central Registry at University of Ulster • 2015 Central Registry will move to Joint Research Centre at ISPRA, Italy, under the EU Rare Diseases Platform. •Expansion in Europe and Associate Members •Paper to electronic data Expansion •EDMP software & electronic transmission •Website dissemination •Data Quality Indicators •Statistical Monitoring Systems development •Use of data for Research Institutional sustainability •Separation of central functions and research? •Integration with other European institutions, systems and databases? •Member State support? What is a disease registry and is there an ideal size? The bringing together of sources of expertise (people) and sources of data to shed light on a disease in relation to its prevalence, causes/prevention and care/services in a specified population - expertise: different clinical areas, epidemiology, statistics, public health, specific exposure assessment fields ……….. and the expertise of those personally affected - data sources - Electronic data sources present increasing opportunities, but also challenges, across Europe - Registry = validated data Regional (up to 40,000 births), national networking, European networking Types of surveillance based on CA registries • Statistical Monitoring (without prior hypothesis) – Recent Clusters in time – Trends in time, geographical differences • Response to exposure incidents/health threats/disasters – Chernobyl – Swine Flu/H1NI • Surveillance oriented to identifying environmental causes (with different levels of prior hypothesis) – Pharmacovigilance – Envirovigilance • Surveillance oriented to evaluating primary prevention – NTD prevalence and prevention by periconceptional folic acid • Surveillance oriented to health service needs and evaluation – Prenatal screening and diagnosis, TOPFA, mortality rates – Children needing services Antiepileptic studies Literature review for signals . Test signals in Casemalformed control design for specificity 3.9 million births, 19952005 19 registries: pooling Including TOPFA Exposure data collected mainly prospectively in pregnancy Epilepsy: 3 per 1,000 women, now AEDs used for other indications To develop a European reproductive pharmacovigilance system • • • To develop and test an efficient and cost-effective system for safety evaluation of drugs during pregnancy, based on EUROCAT registries combined with existing healthcare databases – Signal detection and signal evaluation – Registry Linkage to prescription databases, exposed cohorts, population databases – Designs: case-malformed control, cohort To quantify the risk of congenital anomalies related to four drug classes: – new antiepileptics, – insulin analogues, – anti-asthmatics, – Antidepressants (SSRIs) To develop a framework for evaluation of the efficacy of pregnancy-related drug safety measures including – drug utilisation studies – monitoring the effectiveness of pregnancy prevention programmes (e.g. isotretinoin) – a scoping study of the role of internet access to drugs and related safety information by pregnant women Antidepressant (SSRI) exposure in early pregnancy • Aims: To examine the specificity of association between specific SSRIs and specific congenital anomalies • Case-malformed control study • Population: 12 EUROCAT registries , 1995-2009, 3.3 million births • SSRI exposure among registrations 0.8% • Cases: CHD, CHD subtypes, and other CA “signals” from the literature • Controls: other CA (excl genetic syndromes) • EUROCAT study Results: • Severe CHD OR 1.56 (1.03-2.38) • OR>2 for anorectal atresia&stenosis, gastroschisis, renal dysplasia, clubfoot • Risks similar for all types of SSRI • Interpretation: non-specific SSRI teratogenic effect? depression? Susceptibility to depression? Lifestyle confounders? Or more than one of these. • EUROmediCAT: updating data to 2012, prescription data linkage where available, population cohort in 3 countries, drug utilisation study Types of surveillance based on CA registries • Statistical Monitoring (without prior hypothesis) – Recent Clusters in time/ clusters in space – Trends in time, geographical differences • Response to exposure incidents/health threats/disasters – Chernobyl – Swine Flu/H1NI • Surveillance oriented to identifying environmental causes (with different levels of hypothesis) – Pharmacovigilance – Envirovigilance • Surveillance oriented to evaluating primary prevention – NTD prevalence and prevention by periconceptional folic acid • Surveillance oriented to health service needs and evaluation – Prenatal screening and diagnosis, TOPFA, mortality rates – Children needing services Has periconceptional folic acid supplementation in Europe prevented neural tube defects? Prevalence per 10,000 births of Neural Tube Defects, for All Full Member Registries, from 1991 – 2010 *Still births and Fetal Deaths from 20 weeks gestation * Primary Prevention of Congenital Anomalies • • • EUROCAT in collaboration with EUROPLAN have developed recommendations on policies to be considered for the primary prevention of congenital anomalies in National Plans (and Strategies) on Rare Diseases – EUCERD approval – J Public Health Genomics 2014, Taruscio et al. In the field of: – Medicinal drugs – Food/nutrition and lifestyle (e.g. folic acid, obesity, smoking, alcohol) – Health Services (e.g. vaccination, women with chronic diseases, genetic counselling) – Environmental pollution incl. the workplace Mechanisms: – Preconceptional care – high vs low risk parents – Health promotion to future parents and awareness raising: major health determinants + pregnancy specific issues – Public health approaches: vaccination, food fortification – Regulatory policies (pharmaceutical, food, environmental, tobacco, alcohol) – Research and surveillance (CA and exposure), and expert review Key Public Health Indicators for CA 2008-2012: where is the UK? EUROCAT UK Ukraine Switzerland Spain Portugal Poland Norway Netherlands Malta Italy Ireland Hungary Germany France Denmark Croatia Belgium Austria Rate per 1,000 births Perinatal Mortality due to CA By Country 2008-2012 4 3.5 3 2.5 2 1st week deaths 1.5 Fetal deaths 1 0.5 0 Prevalence of Prenatally Diagnosed CA By Country 2008-2012 40 35 Rate per 1,000 births 30 25 20 Diag n/k Not PD 15 PD non-chromo PD chromo 10 5 0 Termination of Pregnancy for Fetal Anomaly By Country 2008-2012 9 8 Rate per 1,000 births 7 6 5 4 Non-chromo Chromosomal 3 2 1 0 EUROCAT UK Ukraine Switzerland Spain Portugal Poland Norway Netherlands Malta Italy Ireland Hungary Germany France Denmark Croatia Belgium Austria Rate per 1,000 births Down Syndrome By Country 2008-2012 (9% of all CA) 4 3.5 3 2.5 2 TOPFA Fetal death 1.5 Live birth 1 0.5 0 Proportion of all births to mothers 35 years and older, 1990-99,2000-9. 35.0 % mothers 35+ years 30.0 25.0 20.0 15.0 1990-99 10.0 2000-09 5.0 0.0 See Loane et al European Journal of Human Genetics 2013: Twenty-year trends in the prevalence of Down syndrome and other trisomies in Europe: impact of maternal age and prenatal screening. EUROCAT UK Ukraine Switzerland Spain Portugal Poland Norway Netherlands Malta Italy Ireland Hungary Germany France Denmark Croatia Belgium Austria Rate per 1,000 births Neural Tube Defects By Country 2008-2012 (3.6% of all CA) 4 3.5 3 2.5 2 TOPFA 1.5 Fetal death Livebirth 1 0.5 0 Conclusions - 1 • Why European? – To pool, compare, and share people & resources • Why CA Surveillance? – For prevention and care • Why registers? – To bring the people (expertise of many kinds) together with the data – TOPFA coverage essential Conclusions - 2 – Why are not having more success preventing CA? • TOPFA are preventable too • Expectations • Preconceptional and interconceptional interventions – Emerging issues: • Obesity and diabetes • Asthmatics/asthma and antidepressants/depression • Internet availability of teratogenic drugs EUROCAT Registry Leaders Prof. Martin Haeusler (Styria, Austria) Dr. Vera Nelen (Antwerp, Belgium) Prof. Christine Verellin-Dumoulin (Hainut, Belgium) Prof. Ingeborg Barisic (Zagreb, Croatia) Dr. Antonin Sipek (Czech Republic) Dr. Ester Garne (Odense, Denmark) Dr. Annukka Ritvanen (Finland) Dr. Babak Khoshood (Paris, France) Dr Bruno Schaub (French West Indies, France) Dr Hanitra Randrianaivo (Reunion, France) Dr. Annette Queisser-Luft (Mainz, Germany) Dr. Anke Rissmann (Saxony Anhalt, Germany) Dr. Judit Beres (Hungary) Dr. Robert McDonnell (Dublin, Ireland) Dr. Carmel Mullaney (SE Ireland) Dr. Mary O’Mahoney (Cork and Kerry, Ireland) Dr. Gioacchino Scarano (Campania, Italy) Prof. Elisa Calzolari (Emilia Romagna, Italy) Dr. Fabrizio Bianchi (Tuscany, Italy) Dr. Miriam Gatt (Malta) Dr. Ieve Grinfelde and Dr. Ivea Cirule (Latvia) Dr. Marian Bakker (N Netherlands) Prof. Marta Ebbing (Norway) Prof. Anna Latos-Bielenska (Wielkopolska, Poland) Dr. Carlos Matias Dias (S Portugal) Dr Gorazd Rudolf (Slovenia) Dr. Larraitz Arriola (Basque Country, Spain) Prof. Maria-Luisa Martinez Frias (Spain Hospital Network) Dr. Oscar Zurriaga (Valencia, Spain) Dr Karin Kallen (Sweden) Dr. Marie-Claude Addor (Switzerland) Prof. Liz Draper (EMYSCAR, UK) Prof. Judith Rankin (N England, UK) Dr. Rosie Thompson (SW England, UK) Dr. Catherine Rounding (Thames Valley, UK) Mr David Tucker (Wales) Dr. Diana Wellesley (Wessex, UK) Prof Joan Morris (UK) Dr Wladimir Wertelecki (Ukraine) EUROCAT Central Registry (University of Ulster, UK) Prof. Helen Dolk Ms Maria Loane Mrs Ruth Greenlees Mrs Barbara Norton Dr. Nichola McCullough Dr. Breidge Boyle Mrs Barbra Webber Dr. Rhonda Curran Percentage of births in population covered by EUROCAT registries 2011 (should it be 100%? – quality vs quantity) Austria (1F) Belgium (2F) Croatia (1F) Czech Republic (1A) Denmark (1F) Germany (2F) Ireland (3F) Spain (2F, 1A) Finland (1A) France (3F, 1A) Hungary (1F) Italy (2F) Malta (1F) Netherlands (1F) Norway (1F) Poland (1F, 1A) 13% 27% 20% 100% 8% 3% 62% 34% 100% 14% 100% 14% 100% 10% 100% 100% Portugal (1F) Sweden (1A) Switzerland (1F) United Kingdom (6F) 19% 100% 10% 32% Affilliates and applicants Bulgaria Cyprus Greenland Latvia Moldova Slovenia EU countries not covered Estonia, Greece, Lithuania, Luxembourg, Romania, Slovakia Styria, Austria EUROCAT Wessex, UK Wales, UK Thames Valley, UK S W England, UK N England, UK E Mids & S Yorks, UK Ukraine Vaud, Switzerland Valencia Region, Spain Basque Country, Spain S Portugal Wielkopolska, Poland Norway N Netherlands Malta Tuscany, Italy Emilia Romagna, Italy S E Ireland Dublin, Ireland Cork and Kerry, Ireland Hungary Saxony Anhalt, Germany Mainz, Germany Paris, France Isle de la Reunion, France French W Indies, France Odense, Denmark Zagreb, Croatia Hainaut, Belgium Antwerp, Belgium Rate per 1,000 births Perinatal Mortality By Registry 2008-2012 4 3.5 3 2.5 2 1.5 1st week deaths 1 Fetal deaths 0.5 0 Styria, Austria Antwerp, Belgium Hainaut, Belgium Zagreb, Croatia Odense, Denmark French W Indies, France Isle de la Reunion, France Paris, France Mainz, Germany Saxony Anhalt, Germany Hungary Cork and Kerry, Ireland Dublin, Ireland S E Ireland Emilia Romagna, Italy Tuscany, Italy Malta N Netherlands Norway Wielkopolska, Poland S Portugal Basque Country, Spain Valencia Region, Spain Vaud, Switzerland Ukraine E Mids & S Yorks, UK N England, UK S W England, UK Thames Valley, UK Wales, UK Wessex, UK EUROCAT Rate per 1,000 births Termination of Pregnancy for Fetal Anomaly By Registry 2008-2012 12 10 8 6 4 Non-chromo Chromosomal 2 0 Styria, Austria EUROCAT Wessex, UK Wales, UK Thames Valley, UK S W England, UK N England, UK E Mids & S Yorks, UK Ukraine Vaud, Switzerland Valencia Region, Spain Basque Country, Spain S Portugal Wielkopolska, Poland Norway N Netherlands Malta Tuscany, Italy Emilia Romagna, Italy S E Ireland Dublin, Ireland Cork and Kerry, Ireland Hungary Saxony Anhalt, Germany Mainz, Germany Paris, France Isle de la Reunion, France French W Indies, France Odense, Denmark Zagreb, Croatia Hainaut, Belgium Antwerp, Belgium Rate per 1,000 births Prenatal Diagnosis By Registry 2008-2012 50 45 40 35 30 25 20 Diag n/k 15 Not PD PD non-chromo 10 PD chromo 5 0 EUROCAT Wessex, UK Wales, UK Thames Valley, UK S W England, UK N England, UK E Mids & S Yorks, UK Ukraine Vaud, Switzerland Valencia Region, Spain Basque Country, Spain S Portugal Wielkopolska, Poland Norway N Netherlands Malta Tuscany, Italy Emilia Romagna, Italy S E Ireland Dublin, Ireland Cork and Kerry, Ireland Hungary Saxony Anhalt, Germany Mainz, Germany Paris, France Isle de la Reunion, France French W Indies, France Odense, Denmark Zagreb, Croatia Hainaut, Belgium Antwerp, Belgium Styria, Austria Rate per 1,000 births Down Syndrome By Registry 2008-2012 5 4.5 4 3.5 3 2.5 2 TOPFA 1.5 Fetal death 1 Live birth 0.5 0 EUROCAT Wessex, UK Wales, UK Thames Valley, UK S W England, UK N England, UK E Mids & S Yorks, UK Ukraine Vaud, Switzerland Valencia Region, Spain Basque Country, Spain S Portugal Wielkopolska, Poland Norway N Netherlands Malta Tuscany, Italy Emilia Romagna, Italy S E Ireland Dublin, Ireland Cork and Kerry, Ireland Hungary Saxony Anhalt, Germany Mainz, Germany Paris, France Isle de la Reunion, France French W Indies, France Odense, Denmark Zagreb, Croatia Hainaut, Belgium Antwerp, Belgium Styria, Austria Rate per 1,000 births Anomalies Typically Requiring Surgery By Registry 2008-2012 (Excluding Chromosomal Cases) 8 7 6 5 4 3 TOPFA Fetal death 2 Livebirth 1 0 Styria, Austria EUROCAT Wessex, UK Wales, UK Thames Valley, UK S W England, UK N England, UK E Mids & S Yorks, UK Ukraine Vaud, Switzerland Valencia Region, Spain Basque Country, Spain S Portugal Wielkopolska, Poland Norway N Netherlands Malta Tuscany, Italy Emilia Romagna, Italy S E Ireland Dublin, Ireland Cork and Kerry, Ireland Hungary Saxony Anhalt, Germany Mainz, Germany Paris, France Isle de la Reunion, France French W Indies, France Odense, Denmark Zagreb, Croatia Hainaut, Belgium Antwerp, Belgium Rate per 1,000 births Neural Tube Defects By Registry 2008-2012 2.5 2 1.5 1 TOPFA Fetal death Livebirth 0.5 0 Types of surveillance based on CA registries • Statistical Monitoring (without prior hypothesis) – Recent Clusters in time – Trends in time, geographical differences Cluster output: Scan method Cluster detection for the period 2007-2013 by year: no. EUROCAT registries included in monitoring and their population coverage, number of tests conducted and clusters detected, and results of cluster investigations. 2007 2008 2009 2010 2011 2012 2013 Total 2007-2013 10 11 10 16 16 17 18 - 234,31 7 11,891 226,01 1 10,687 272,97 5 12,048 390,51 0 16,654 401,28 2 18,275 473,67 5 22,152 505,250 - 23,619 - Congenital anomaly subgroups (n) 75 75 75 76 76 73 72 - Tests performed (n) 482 500 487 766 805 882 901 4823 Cluster detection rate (%) 2.90% 3.40% 4.72% 3.92% 2.48% 3.06% 3.77% 3.42% Total clusters detected (n) 14 17 23 30 20 27 34 165 New* clusters (n) 12 15 18 21† 16 24 20 126 Old* clusters (n) 2 2 4 4 3 3 7 25 Continuing* Cluster (n) 0 0 1 5 1 0 7 14 Investigation results (new clusters only) Cluster confirmed, no explanation 2 9 6 7 2 11 7 44 (34.9%) Cluster due to data quality issues 3 3 5 6 2 6 10 34 (27.8%) Cluster due to increasing prenatal diagnosis Heterogeneous anomalies in cluster 0 0 2 1 7 0 0 10 (7.9%) 4 3 2 3 5 6 3 26 (20.6%) No investigation 3 0 3 4 0 1 0 11 (8.7%) Registries (n) Annual population covered (no. births) Cases of Congenital Anomaly (n) Anomalies Typically Requiring Surgery By Country 2008-2012 (Excl Chrom) 20% of all CA, half of all cases needing surgery 9 8 6 5 TOPFA 4 Fetal death Livebirth 3 2 1 EUROCAT UK Ukraine Switzerland Spain Portugal Poland Norway Netherlands Malta Italy Ireland Hungary Germany France Denmark Croatia Belgium 0 Austria Rate per 1,000 births 7 Overview:2008-2012 Types of surveillance based on CA registries • Statistical Monitoring (without prior hypothesis) – Recent Clusters in time – Trends in time, geographical differences • Response to exposure incidents/health threats/disasters – Chernobyl – Swine Flu/H1NI Pandemic influenza studies • Time series study – January 2007 – March 2011 conceptions – 26,976 non-chromosomal congenital anomaly registrations from 10 European countries • Exposure based on country-specific influenza season data from WHOEuroFlu influenza season tables LMP Conception EUROCAT CA case delivery Corresponding CA-specific Critical Period A fortnight Is added Gestational age is subtracted Timeline