www.orpha.net

State of the Arts of Services in Europe:

where are the problems ?

5the European Conference on Rare Diseases 2010

Krakow, Poland, 13 may 2010

segolene.ayme@inserm.fr

Paris, France

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Proper Health Care System•Infrastructures•Funding•Policy

Services addressing rarity

AVAILABILITY OF SERVICES

AFFORDABILITY OF SERVICES

Services for disabled:• Rehabilitation centres

National policy and social forums

Access to innovative therapies

Support to patient groups

Genetic services in each region:• Clinical services for diagnosis• Molecular/cytogenetics/biochemistry laboratories• Genetic counseling

Funding for network and registries

Neonatal screening for additional diseases if relevant

Specialised centres for disability due to RD

Academic research:• Funding bodies• Call for proposals

Neonatal screening for PKU and hypothyroidism

Centres of expertise by disease / group of diseases

Information in national languages:• Clinical guidelines

Networks of laboratories by level / External quality assessment

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National Centres of Expertise

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Designated centres of expertise

Countries with official RD centres:• Denmark• France• Sweden• Norway• Italy• Spain

Countries with official expert centres:• Belgium

• Austria

• Czech Republic

• Germany

• Greece

• Netherlands

• Slovenia

• Switzerland

• UK

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European Networks

Call for proposals from DG Public Health since 2007

Calls for proposals from DG Research

since 2000

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Current Pilot European Reference Networksof Centres of Expertise

European network of paediatric Hodgkin’s lymphoma Project Leader: University of Leipzig (D)

European Network of Reference for Rare Paediatric Neurological Diseases (NEUROPED) Project Leader: European Network for Research on Alternating Hemiplegia (AT)

A reference network for Langerhans cell histiocytosis and associated syndromes Project Leader: Assistance Publique Hôpitaux de Paris (FR)

European Centres of Reference Network for Cystic Fibrosis (ECORN-CF)Project leader - Klinikum der Johann Wolfgang Goethe-Universität, Germany

European Network of Centres of Reference for Dysmorphology (Dyscerne)Project leader - University of Manchester, UK

Patient Associations and Alpha1 antitrypsin International Registry (PAAIR)Project leader - Stichting Alpha1 International Registry, the Netherlands

European Porphyria Network - providing better healthcare for patients and their families (EPNET)Project leader - Assistance Publique - Hôpitaux de Paris, France

European Network of Rare Bleeding Disorders Project leader - Università degli Studi di Milano, Italy

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Outcome so far….

Main areas for action:• Establishment of a common patient registry / of a network of

registries

• Establishment of a process to submit questions to the Experts Submission of questions and development of library of FAQs

Submission of clinical data for undiagnosed patients

• Development of clinical guidelines

Common problems• Funding for three years: Too short a period to produce any

meaningful results

• How to expand the network to cover more countries (criteria and funding)

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Molecular genetics services

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Diagnostic tests are part of quality healthcare

Orphanet and EuroGentest provide information

on available tests in Europe

and surrounding countries

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Major progresses in gene identification translated into diagnostic tests

Number of genes tested by country Number of diseases tested by country

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Genes tested in the greatest number of laboratories

297 genes are tested in 1 laboratory only (19%)

1,189 genes are tested in less than 10 labs (76%)

1,088 genes are tested in less than 5 countries (69%)

395 genes are tested in 1 country only (25%

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Quality Assurance of genetic services

107 laboratories are accredited for at least some part of their diagnostics activities:

CPA standards24

CCKL guidelines

ISO 15189

ISO 17025

7

37

25

14 1

432 laboratories participated in at least one External Quality Assessment scheme during the last 5 years through 46 different EQA organisations

: 198 participating laboratories

: 155 participating laboratories

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Availability of innovative treatments

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Availability at national level in 2007 of the 22 first OMPs authorised at EU level before 1 January 2006 (source: Eurordis Survey)

20-21

15-19

10-14

5-9

0-5

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Information services

www.orpha.net

Information sources at country level

Orphanet portal: • only in 5 languages (English, French, German, Italian, Spanish) today, • in more languages soon with front pages in all languages

Country National information centres

National helplines

Bulgaria x x

Denmark x x

Finland x

France x x

Germany x

Italy x x

Norway x x

Sweden x

Spain x x

UK x x

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Supported by DG Sanco (Orphanet contract) Supported by DG Research (RDPlatform contract

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A common portal / A diversity of sources

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Challenges/Opportunities for Orphanet

Challenges• Size of the topic to be covered: 7,000 diseases• Quick turn-over of knowledge / new scientific facts• Quick turn-over of information technologies• Multilinguism in Europe: 23 « official » languages• Diversity of health care systems and research systems in

Europe

Opportunities• Core investment already made • Possibility to customise the website to adapt it to each country• Many new producers of information: learned societies, patient

organisations, networks• Well-established website: successful partnership with scientific

journals to provide free access to articles• New governance through a Joint Action in 2011

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Sources of data for clinical research

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395 Registries as strategic toolsNumber of patient registries per country

France 103

Germany 51

Great Britain 50

Italy 47

Spain 28

Belgium 19

Netherlands 10

Austria 13

Ireland 9

Portugal 7

Switzerland 6

Greece 2

Bulgaria 4

Denmark 3

Romania 2

Orphanet Report Series on Orphanet front page

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Characteristics of Patient Registries

Regional

National

European

Global

Academia

Patient organisation

Industry

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60 International Patient Registries around a medicinal product

Cystic fibrosis

Alpha 1 anti-trypsin

Bleeding disorders

Langerhans cell histiocytosis

Severe chronic neutropenia

Biliary atresia

Neuromuscular diseases

Wilson disease

Fanconi anemia

Pulmonary hypertension

Metabolic diseases: Gaucher, Fabry, Pompe, MPS1…

Ondine syndrome

Primary immunodeficiencies

Retinal dystrophies

Huntington disease

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Policy to develop services in MS

Adopted• 2004: French Plan / 2010: 2nd French Plan

• 2008: Portuguese Plan

• 2008: Greek Plan

• 2009: Bulgarian Plan

• 2009: Spanish Strategy

In preparation• Austria

• Belgium

• Czech Republic

• Germany

• Italy

• Romania

• UK

First steps taken• Cyprus

• Finland

• Luxembourg

• Lithuania

• Malta

• Norway

• Poland

• Sweden

• Turkey

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CONCLUSION

Still major discrepancies between countries, mainly due to differences in health care systems and economic situation

Necessity to agree on cross-border activities:• Networks: mix research and clinics – long term committment

• Establish a strategy for cross border biological testing

• Public/private partnership for patient registries

• Joint effort to produce clinical guidelines / information in general

Close surveillance of policy developments• EUCERD annual report at www.eucerd.eu

• OrphaNews Europe at www.orpha.net

Dialogue and cooperation between stakeholders• EUCERD as the tool

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Report on initiatives and incentives 2009

www.eucerd.eu