workshop 1 - "the eu tender on newborn screening for rare disordersin europe"

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European Union action in the field of newborn screening for

some rare diseases

Amsterdam, 14th May 2011

Antoni Montserrat MolinerPolicy Officer for Rare Diseases

DG SANCO Health Information Unit European Commission

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Legal basis for the developments of the EU Public Health Policy

Based on new Article 168 (former 152) of the EU Treaty

A Community action programme on Rare Diseases, including genetic diseases, was adopted for the period of 1 January 1999 to 31 December 2003 with the aim of ensuring a high level of health protection in relation to RD. As the first EU effort in this area, specific attention was given to improving knowledge and facilitating access to information about these diseases.

Orphan Medicinal Product Regulation (Regulation (EC) No 141/2000 of the European Parliament and of the Council of 16 December 1999 on orphan medicinal products, was proposed to set up the criteria for orphan designation in the EU and describes the incentives (e.g. 10-year market exclusivity, protocol assistance, access to the Centralised Procedure for Marketing Authorisation) to encourage the research, development and marketing of medicines to treat, prevent or diagnose rare diseases.

For the period 2008-2013 the Commission has adopted the White Paper COM(2007) 630 final “Together for Health: A Strategic Approach for the EU 2008-2013” of 23 October 2007 developing the EU Health Strategy. Actions under Objective 1 of this EU Strategy cover a Communication on European Action in the Field of Rare Diseases and in point 4.1 of this EU Strategy it is suggested to put forward EC-level structured cooperation mechanisms to advise the Commission and to promote cooperation between the Member States.

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Legal basis for the developments of the EU Public Health Policy

As a consequence Rare diseases are now one of the priorities in the Second EU Health Programme 2008-2013. According to the DG SANCO Work Plans for the implementation of the Public Health Programme, main lines of action and priorities are choosed very year. Work Plan for 2011 in process of publication.

In the current Framework Programme, the FP7, the Health Theme of the "Cooperation" Specific Programme, is designed to support multinational collaborative research in different forms. The main focus of the Health theme in the rare diseases area are Europe-wide studies of natural history, pathophysiology, and the development of preventive, diagnostic and therapeutic interventions.

Commission Communication COM (2008) 679/2 to the European Parliament, the Council, the Economic and Social Committee and the Committee of the Regions on Rare diseases: Europe’s challenges creating an integrated approach for the EU action in the field of rare diseases. Adopted 11th November 2008.

Council Recommendation on a European action in the field of rare diseases recommending actions at national level to implement the EU action (e.g. National Plans for Rare Diseases). Adopted 8th June 2009.

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Future legal basis for the developments of the EU Public Health Policy

Decision of the Commission creating a European Union Committee of Experts on Rare Diseases during 2009. To be composed by 51 members representing Member States, patient’s organisations, industry, FP Projects, Health Programme projects, etc. Adopted 30th November 2009.

Directive of the European Parliament and of the Council on the application of patients' rights in cross-border healthcare (COM(2008)414) provides for the development of European reference networks (ERNs) to be facilitated by the Member States. The ERN for Rare Diseases will have a strategic role in the improvement of quality treatment for all patients throughout the European Union as called by the patients' organisations. Published in the Official Journal 9th March 2011.

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The Commission Communication and the Council Recommendation on rare diseases

The European Union approach

There is probably no other area in public health in which 27 national approaches could be considered to be so inefficient and ineffective as with rare diseases. The reduced number of patients for these diseases and the need to mobilise resources could be only efficient if done in a coordinated European way.

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The Commission Communication and the Council Recommendation on rare diseases - Main objectives

1. Plans and strategies in the field of rare diseases 2. Adequate definition, codification and inventorying of rare

diseases3. Research on rare diseases 4. Centres of expertise and European reference networks for rare

diseases 5. Gathering the expertise on rare diseases at European level 6. Empowerment of patient organisations 7. Sustainability

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New priorities after Commission Communication and Council Recommendation

V. Gathering the expertise on rare diseases at European level

Prevention of rare diseases

• Newborn screening of some rare disorders

• Folic acid fortification to prevent neural tube defects

• Pre-primary prevention measures (ante-natal, pre-natal, PGD, others)

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V. Prevention of rare diseases: Newborn screening of some rare disorders

Point 5.8. in the Commission Communication on Screening practices

Neonatal screening for Phenylketonuria and congenital hypothyroidism is current practice in Europe and proved highly efficient in preventing disabilities in affected children. As technology evolves, many tests can now be performed, including those by robots, at low cost for a wide range of rare diseases, especially metabolic disorders and genetic conditions in general. It is recommended to encourage cooperation in this area to generate evidence on which decisions should be based at Member States level. An evaluation of current population screening (including neonatal screening) strategies for rare diseases and of potential new ones, will be conducted by the Commission at EU level to provide Member States with the evidence (including ethical aspects) on which to base their political decision. The Commission will consider such support as a priority for action.

Point V.17.d of Council Recommendation

the development of European guidelines on diagnostic tests or population screening, while respecting national decisions and competences;

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An evaluation of possible population screening (including neonatal screening) strategies for Rare Diseases launched in June 2009

• Call for Tender launched in June 2009 concerning evaluation of population newborn screening practices for rare disorders in Member States of the European Union (18 months)

• Deliverable 1: "Report on the practices of NBS for rare diseases implemented in all the Member States including number of centres, estimation of the number of infants screened and the number of disorders included in the NBS as well as reasons for the selection of these disorders". The study includes the necessary tables which list all screening requirements and outputs useful to adopt future decisions in a comparative basis.

• Deliverable 2: "Expert opinion on the development of European policies in the field of newborn screening for rare diseases". This expert opinion will also discuss the existing barriers and propose solutions to be implemented, if feasible, at the EU level.

• Deliverable 3: "Set up of a European Union Network of experts on Newborn Screening and organization of a Final European Experts Consensus Workshop on Newborn Screening"

• A consortium leaded by the Istituto Superiore di Sanità (Italy) is working about.

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Deliverable 1:

• "Report on the practices of NBS for rare diseases implemented in all the Member States including number of centres, estimation of the number of infants screened and the number of disorders included in the NBS as well as reasons for the selection of these disorders".

• The study includes the necessary tables which list all screening requirements and outputs useful to adopt future decisions in a comparative basis.

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Deliverable 1:

• Fully on line with Wilson and Jungner criteria (1968):

1. The condition sought should be an important health problem. 2. There should be an accepted treatment for patients with recognized disease. 3. Facilities for diagnosis and treatment should be available. 4. There should be a recognizable latent or early symptomatic stage. 5. There should be a suitable test or examination. 6. The test should be acceptable to the population. 7. The natural history of the condition, including development from latent to

declared disease, should be adequately understood. 8. There should be an agreed policy on whom to treat as patients. 9. The cost of case-finding (including diagnosis and treatment of patients

diagnosed) should be economically balanced in relation to possible expenditure on medical care as a whole.

10. Case-finding should be a continuing process and not a “once and for all” project.

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Deliverable 1:

• The disorders most frequently included in the Member States' respective NBS programmes (PKU, congenital hypothyroidism (CH), congenital adrenal hyperplasia (CAH), cystic fibrosis (CF), medium chain acyl-CoA dehydrogenase deficiency (MCADD) are universally acknowledged as important health problems where an early diagnosis prevents irreparable damage. The same argument can be made for sickle cell disease (SCD)/β thalassemia in Mediterrean countries and countries with migrant populations.

• In the current age of high throughput technology, a relevant question is whether each of the conditions in a NBS programme needs to fulfil the criterion “important health problem”.

• The availability of treatment may differ between EU countries due to economic differences. What is accepted and available in one country, may not be affordable everywhere.

• Furthermore, the criterion “treatment available” has been broadened in many discussions on genetic screening to include other advantages to parents, especially (a) avoiding a diagnostic odyssey and (b) informed reproductive choice for the next pregnancy(ies). The primary aim of NBS programmes is to improve the health status of infants with treatable conditions.

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Deliverable 2:

• "Expert opinion on the development of European policies in the field of newborn screening for rare diseases".

• This expert opinion will also discuss the existing barriers and propose solutions to be implemented, if feasible, at the EU level.

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Deliverable 3:

• "Set up of a European Union Network of experts on Newborn Screening and organization of a Final European Experts Consensus Workshop on Newborn Screening"

• Final European Experts Consensus Workshop on Newborn Screening (20-21 June 2011) in Luxembourg

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Indicative time table

• Final European Experts Consensus Workshop on Newborn Screening (20-21 June 2011) in Luxembourg

• Final Report from European Network available on September 2011

• First discussion on the EUCERD (European Union Committe of Experts on Rare Diseases) next 24-25 October 2011 in Luxembourg. Adoption of a method of discussion. Invitation to all the stakeholders to contribute.

• Meeting of the European Union Network of experts on Newborn Screening as EUCERD Workshop (Second quarter 2012)

• Second discussion on the EUCERD (European Union Committe of Experts on Rare Diseases) on 2012.

• If agreement, proposal of Council Recommendation endorsed by EUCERD to be submitted to the Council End 2012/ Beginning 2013.

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DG SANCO priorities on rare diseasesWeb site

Public health actions

http://ec.europa.eu/health/rare_diseases/policy/index_en.htm

Contact point at DG [email protected]

Research actions

http://ec.europa.eu/research/health/medical-research/rare-diseases/index_en.html

Contact point at DG [email protected]

workshop 1 - "the eu tender on newborn screening for rare disordersin europe"

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