Governance of the European newborn screening systems. What framework for future EU newborn screening policies in the EU Martina Cornel, MD, PhD Professor of community genetics & public health genomics On behalf of the Tender NBS team EURORDIS Amsterdam 14th May 2011 Quality of Care Community Genetics, Dept Clinical Genetics EMGO Institute for Health and Care Research • Introduction • Survey – Who decides – Transparency Neonatal screening (heelprick) Neonatal screening NL 2006-2007 • Biotinidase deficiency • Cystic fibrosis (conditional; pilot 2008; start 2011) • Galactosemia • Glutaric aciduria type I • HMG-CoA-lyase deficiency • Holocarboxylase synthase deficiency • Homocystinuria • Isovaleric acidemia • Long-chain hydroxyacyl CoA dehydrogenase deficiency • Maple syrup urine disease • MCAD deficiency mental retardation or • 3-methylcrotonyl-CoA carboxylase deficiency sudden death • Sickle cell disease • Tyrosinemia type I • Very-long-chain acylCoA dehydrogenase deficiency 2006 • PKU (1974) • Congenital hypothyroidism (1981) • Congenital Adrenal Hyperplasia (2001) Medication or diet to avoid Why more diseases? • More treatment available – Early detection: less health damage • More tests available (high throughput) – MS/MS • Many more promises in the age of genomics: how to proceed? Sir Muir Gray (Nat Scr Comm UK) All screening programmes do harm. Some do good as well and, of these, some do more good than harm at reasonable cost. To screen or not to screen? • How to balance pros and cons? Screening criteria: W&J still apply! • When to screen? – Wilson en Jungner WHO 1968. – A variety of sets of criteria derived from W&J • Important public health problem (prevalence & severity) • Is treatment available? Does early treatment help? • Course of disease known; frequency known • Good test (high sensitivitity; high specificity, high positive predictive value) • Uniform treatment protocol; knowing whom to treat • Etc Screening criteria (Grosse, Public Health Genomics 2010) • Evidence – Early treatment leads to less mortality, morbidity, loss of weight, days in hospital, pain, suffering, better QoL • Economics – Limited health care resources; cost per QALY under limit • Ethics – More pros (longer and healthier life) than cons (false positives; mild cases; incidental findings) • Introduction • Survey – Who decides – Transparency EU Tender • “Evaluation of population newborn screening practices for rare disorders in Member States of the European Union” • Deliver: – Report on the practices of NBS for rare disorders implemented in all Member States – Expert opinion document, including decision-making matrix, on the development of European policies in the field of newborn screening for rare diseases – EU Network of Experts on NBS (EUNENBS) – European Experts Consensus Workshop on NBS (June 2011) European Commission decisions + actions • Nov 11, 2008: adoption of Commission Communication nr 679 • June 9, 2009: Council recommendation on a European Action in the field of Rare Diseases • July 18, 2009: EAHC call for tender 2009/Health/09 concerning evaluation of population newborn screening practices for rare disorders in EU Member States EU Tender, project group • Luciano Vittozzi, Domenica Taruschio (ISS, Rome, Italy) – Project leader, logistics • Martina Cornel, Tessel Rigter, Stephanie Weinreich (VUmc, Amsterdam, Netherlands) – Governance • Gerard Loeber (RIVM, Bilthoven, Netherlands) – Screening (blood sampling, assays, reports, storage) • Georg Hoffmann, Peter Burgard, Kathryn Rupp (Univ Heidelberg, Heidelberg, Germany) – Confirmatory diagnostics, treatment EU Tender, action plan • (2010) Set up surveys stratified to parts of the neonatal screening programme • (2010) Compile lists of experts (DoH, laboratories, paediatricians) • (2010-2011) Receive and evaluate results of survey • Workshops (March 2010, Dec 2010) • (2011) Draft documents sent out for comments • (2011) Finalisation of documents (May-June) • (2011) Consensus workshop (June) • Introduction • Survey – Who decides – Transparency Governance – Attunement between parties Achterbergh et al. Health Policy 2007; 83: 277-286. Andermann et al. Journal of Health Services Research & Policy 2010; 15: 90-97. Attunement between parties • Health regions – Society, medicine, industry, government • Countries – Society, medicine, industry, government • EU? – Some aspects of attunement are not country specific-> room for collaboration – Learn from others? Governance • 17 of 35 jurisdictions surveyed reported to have laws or regulations on newborn screening • 18 have a body which oversees newborn screening (“steering committee”) • 22 have changed NBS program in last 5 years – health authorities almost always involved • physicians specialized in paediatrics and clinical chemistry in one case (Sweden) – health technology assessors sometimes – patient organisations sometimes Involvement of patient organisations in changes in NBS programs 2005-2010 • 22 jurisdictions (21 countries) expanded their neonatal screening programs in the last 5 years. • In 8 of these 22 cases patient groups were involved in the decision to expand neonatal screening. Advocacy groups for screened disorders: 2010 22 jurisdictions 17 have advocacy groups specific to screened disorders – started after NBS – existing before NBS 2 do not 3 unknown NBS policy changes 2005 to 2010 Advocacy groups involved Advocacy groups not involved No policy changes in last 5 years or no indications Belgium (Flanders) Bulgaria France Ireland Poland Romania Norway Belgium (French Community) Czech Republic Germany Netherlands Portugal Slovakia Spain Sweden UK Iceland Austria Estonia Finland Italy Latvia Lithuania Malta Slovenia Croatia Serbia Switzerland Advocacy groups not existing 2010 - Greece FYROM Cyprus Albania Advocacy groups existence unknown 2010 Hungary (item missing) Denmark Luxembourg - Advocacy groups existing 2010 Questions for further research • When were the advocacy groups founded? • Which countries chose not to involve already existing groups in the expansion of NBS? • Are all screened conditions now covered by advocacy groups in all countries? Evaluation -> decision? • Introduction • Survey – Who decides – Transparency Transparency: extend further? • Reports of committees (HTA) – Review of literature – Expert hearings • Pilot studies • Lists of evaluation criteria – International recommendations; professional societies • Decision of ministry in official statement Transparency: information to parents • Website in 19 out of 35 countries where anyone can get information about the newborn screening program • 7 out of 35 of the responding jurisdictions do not actively inform prospective parents • No country specifically informs prospective parents in the first or second trimester of the pregnancy • 13 countries inform prospective parents only after birth at the time of blood sampling • 12 out of 35 countries parents are informed at two or even three time points Transparency: information to parents • Material to support the first communication of the meaning of consequences of a positive NBS result is available in 41% of the countries. Predominantly the material is authored by local heads or directors (68%), but apparently applied on a national level (83%). • Printed or digital material on treatment is available in 69% of the countries. Across all disorders printed or digital material is available in 69% of the countries. Authors predominantly are local heads or directors (61%). Informed consent • 20 of the 37 responding jurisdictions report to ask for informed consent (or dissent). 17 of them also have the possibility to opt-out. • 17 of the 37 report that they do not ask informed consent (or dissent) from parents before the blood sampling – 6 out of 17 report that they do have the possibility to opt-out from screening – 7 said not to have informed consent (or dissent) nor to allow opting out Fireworks disaster Enschede 13 mei 2000 • Children amongst 23 victims • Identification? • Heelprick cards? -> discussion in media undermining trust Research? • In 15 out of 33 countries parents are informed about the fact that bloodspots are retained Information on blood spot retention • More than half of countries do not inform parents of blood spot retention • This is an easy topic; information should be available in all countries • Large variation in length of storage (1 y till >20 y) • Striking number of countries with no defined length • Variation within countries e.g. Spain and Italy • Discussion is needed on storage Conclusion • Challenging field, fast changes in most EU countries • Huge variety • Not all patients with rare diseases profit from optimal NBS programs • Collaboration needed – Training – Exchange of experiences, materials, etc • Role for patients(organisations)! Framework for future policies? • Attunement in jurisdictions – Supported by HTA at EU level? • Important health problem, treatment available, early treatment helps to prevent irreparable damage (assessment W&J criteria) – Horizon scanning at EU level to support decision making in member states? • Learn from other EU memberstates – Training, translation of protocols, exchange? Thanks !!!