Ségolène Aymé Task Force on Rare Diseases European Commission DG Public Health

ENCE Kick off Meeting - Frankfurt - 28 April 2009

Centres of Expertise for Rare Diseases and European Reference Networks

Recommendations from the RDTF and the High Level Group on

Health Services and Medical Care

Ségolène AyméTask Force on Rare Diseases

European CommissionDG Public Health


Rare Diseases Task Force (RDTF)

Established in 2004Sept 2005: Issue of a first report on CR in Europe

Ad hoc expert group 2 workshops (June and September 05)

Dec 2005: RDTF meeting: Update the 2005 reportMarch 2006: report to HLG on plans

Sept 2006: Workshop of the expert groupDec 2006: Publication of the second report

March 2008: Workshop of the expert group

July 2008: Publication of the third report


I- Centres of Expertise / Reference


Expert Centres have always existed in practice…

Hierarchy of knowledgeable experts– Teachers / Authors of articles– Leaders of opinion

Technical platforms– Rich institutions with developped services– Research institution with innovative services

BUT

The information was restricted to a few professionals

No objective criteria


Reasons to move to a more formal approach…..

Budget constraint in teaching hospitals– Annual budget to serve the area population– Strict budget for research activities– Analytical budget

Regulation of clinical research– More administrative constraints– Higher costs

Accessibility of the information through Internet– Second opinion requests by phone, fax, e-mail– Mobility of patients / free choice


Expert Centres for RD seem to be needed….

Patients are rare but experts are rare too….– Need to identify them

Expertise may be found only at International level– Impossible for most countries to offer appropriate services to

all patients

Clinical research is badly needed– Requires cohorts large enough– Systematic collection of data– Production of clinical recommendations


But patients should not have to travel….

Financial constraints– Cost of travel + accomodation

Communication constraints– 23 languages in Europe + cultural differences

Logistical contraints– Expert departments have a limited number of beds

and of clinics


Centres of Reference

Official CR for Rare Diseases:– Denmark, France, Italy, Sweden– In preparation: Spain….

Official networks of CR:– France, Germany, Spain

Official CR but not for Rare Diseases specifically:– Austria, Belgium, Finland, Greece,

Ireland, Netherlands, Spain, UK Non official CR / established by

reputation: all countries


Statements consensus reached

European added value of expert centres Need for disseminating the information Definition of what is an expert centre

– High level of expertise / high volume of activity / capacity to provide expert advice / multidisciplinary approach / links with other centres and patient organisations

Priority for networks of centres Rejection of hierarchy between European

centres and national/regional centres


The definition of what is a CE/CR differs from one country to another…

Definition of rare disease differs

Size of the population to serve differs

Definition of the task differs

Number of diseases to be covered differs

Process to identify CR differs

Financial support differs

Purpose for establishing CR differs


Topics with disagreement (1) Balance benefice / malefice

– Positive• Improving access for EU citizens• Maximising cost /effectiveness• Helping to share knowledge / training

– Negative• Distant referral / long waiting list• Psychological burden: language + isolation• Loss of trust in local services• Loss of interest by other professionals


Topics with disagreement (2)

Scope of activity– Disease centred

• By disease• By medical specialty

– Technology centred• Surgery / investigation / highly specialised

treatment

– Social support centred• Polyhandicap / familial dimension /



Geographical reach of centres– European centres– National centres– Regional centres

VS

Level of designation / funding– EU– Member states– Regions



Centres of reference– National centres– Regional centres– where patients may be referred

VS

Centres of excellence / of expertise– Characterised by communication– Production of guidelines– Shared expertise for patients



From the concepts to the reality– Diffusion of the concepts– Publication of experiences– Follow-up of national initiatives– Definition of responsibilities

• European networks: – European Commission

• Centres at national or regional level– bilateral contracts between countries


Conclusion

Read the RDTF reports

www.rdtf.org

Read the French National Plan for Rare Diseases and the document estblishing the policy around « centres of reference »

www.orpha.net


Conclusions from the third report on Centres of expertise

MS having a policy agree as much as possible on an operational definition of what is a CE and on how to designate them

MS with established CE share their experience and their outcome measures

MS without CE either establish CE or contract with Existing CE

MS identifies their CE and provide them with necessary funding

EC promote the identification of CE and diffuse the information


II- European Reference Networks


ERN definition and scope

« Physical or virtual networking of knowledge and expertise »

Types of networks– Research networks

• Share data through systematic collection• Establish repositories of biological samples• Share expertise for research puroposes

– Public Health networks• Share clinical experience to sort out difficult cases• Produce guidelines based on shared clinical experience• Produce information for all stakeholders


Conclusions from the third report on European Reference Networks

Questions: How can the ERN of highest quality be

selected ? How are selected members of ERN ? How to avoid limiting new initiatives ? How to ensure long-term funding and

competition ? Question of liability of virtual clinics


Conclusions from the third report on European Reference Networks

Recommendations: Provide funding to pilot projects until their

evaluation Establish methods to assess the added-value

of ERN Encourage electronic tools Encourage production of guidelines to

protect patients


Dissemination of Information on expert clinics and European networks

Orphanet services in 5 languages: English, French, German,

Italian, Spanish





Conclusion

Read the RDTF reports

www.rdtf.org

Read the French National Plan for Rare Diseases and the document establishing the policy around

« centres of reference »

www.orpha.net


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Documents

Ségolène Aymé Task Force on Rare Diseases European Commission DG Public Health