Commission staff working document - Summary of the impact assessment Accompanying the Communication from the Commission to the Council, the European Parliament, the European Economic and Social Committee and the Committee of the Regions on Rare Diseases: Europe's challenges {COM(2008)679} {SEC(2008)2712}
Date: 2008-11-11
Institutions: European Commission
Subjects: European cooperation, action programme, illness, medical research, public health, research policy

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COMMISSION OF THE EUROPEAN COMMUNITIES 

Brussels, 11.11.2008 
SEC(2008) 2713 final 

COMMISSION STAFF WORKING DOCUMENT 

Summary of the Impact Assessment 
Accompanying the 
COMMUNICATION FROM THE COMMISSION TO THE COUNCIL, THE 
EUROPEAN PARLIAMENT, THE EUROPEAN ECONOMIC AND SOCIAL 
COMMITTEE AND THE COMMITTEE OF THE REGIONS 
On 
Rare Diseases: Europe's challenges 

{COM(2008)679} 
{SEC(2008)2712} 

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COMMISSION STAFF WORKING DOCUMENT 

Summary of the Impact Assessment 
Accompanying the 
COMMUNICATION FROM THE COMMISSION TO THE COUNCIL, THE 
EUROPEAN PARLIAMENT, THE EUROPEAN ECONOMIC AND SOCIAL 
COMMITTEE AND THE COMMITTEE OF THE REGIONS 
On 
Rare Diseases: Europe's challenges 

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TABLE OF CONTENTS 

1. 

2. 

2.1. 

2.2. 

2.3. 

Introduction .................................................................................................................. 4 

Problem Definition....................................................................................................... 4 

Lack of Recognition and Visibility of Rare Diseases .................................................. 4 

Lack of Policies on Rare Diseases in the Member States ............................................ 4 

Lack of Effective Healthcare, Research, and Regulation for Rare Diseases in Europe
...................................................................................................................................... 4 

2.3.1. 

Inequitable Access to Expert Healthcare ..................................................................... 4 

2.3.2.  Fragmented Research ................................................................................................... 4 

2.3.3. 

Insufficient Legislative Framework ............................................................................. 4 

2.4. 

Subsidiarity .................................................................................................................. 5 

2.4.1.  Necessity Test .............................................................................................................. 5 

2.4.2.  Added-Value Test ........................................................................................................ 5 

3. 

3.1. 

3.2. 

3.3. 

4. 

4.1. 

4.2. 

4.3. 

5. 

5.1. 

5.2. 

5.3. 

6. 

6.1. 

6.2. 

6.3. 

6.4. 

7. 

7.1. 

7.2. 

Objectives..................................................................................................................... 5 

Improving Recognition and Visibility on Rare Diseases............................................. 5 

Supporting Policies on Rare Diseases in the Member States....................................... 6 

Developing European Cooperation, Coordination, and Regulation for Rare Diseases 6 

Policy Options.............................................................................................................. 6 

Baseline Option............................................................................................................ 6 

Commission Communication and Proposal for a Council Recommendation.............. 6 

Re-establish Formal Rare Diseases Programme .......................................................... 6 

Analysis of impacts ...................................................................................................... 6 

Social Impacts .............................................................................................................. 6 

Environmental Impact.................................................................................................. 7 

Economic Impacts........................................................................................................ 7 

Comparing the Options ................................................................................................ 7 

Improving Recognition and Visibility of Rare Diseases.............................................. 7 

Supporting Policies on Rare Diseases in the Member States....................................... 8 

Developing European Cooperation, Coordination, and Regulation for Rare Diseases 8 

Summary ...................................................................................................................... 9 

Monitoring and evaluation ........................................................................................... 9 

Data Collection............................................................................................................. 9 

Comitology and Monitoring Mechanism ..................................................................... 9 

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1. 

INTRODUCTION 

Rare diseases are life-threatening or chronically debilitating diseases with a low prevalence and a 
high  level  of  complexity.  Most  of  them  are  genetic  diseases,  the  others  being  rare  cancers, 
autoimmune  diseases,  congenital  malformations,  toxic  and  infectious  diseases,  among  other 
categories.  They  call  for  a  global  approach  based  on  specific  and  combined  efforts  to  prevent 
significant  morbidity  or  avoidable  premature  mortality,  and  to  improve  quality  of  life  or  socio-
economic potential of affected persons. 

The  prevalence  for  a  rare  disease  is  currently  defined  as  affecting  no  more  than  5  per  10 000 
persons  in  the  European  Union.  Whilst  this  prevalence  rate  seems  low,  it  translates  into 
approximately  246 000  persons  per  disease  in  the  EU  27  Member  States  (MS).  Based  on  present 
scientific knowledge, there are between 5 000 and 8 000 distinct rare diseases that affect up to 6% 
of the total EU population at one point in life. In other words, this equates to between 29 and 36 
million people in the 27 MS that are affected, or will be affected, by a rare disease. 

2. 

PROBLEM DEFINITION 

2.1. 

Lack of Recognition and Visibility of Rare Diseases 

Although  rare  diseases  heavily  contribute  to  morbidity  and  mortality,  they  are  mostly  invisible  in 
health  care  information  systems  due  to  the  lack  of  appropriate  coding  and  classification  systems. 
The lack of formal identification in health systems thus imposes medical and financial barriers to 
receiving  treatment  for  an  unrecognised  disease  that  consequently  lacks  allocated  funds  and 
resources, thus creating a cycle that maintains the current inefficiency. Furthermore, misdiagnosis 
and  non-diagnosis  are  the  main  hurdles  to  improving  life-quality  for  thousands  of  rare  disease 
patients.  

2.2. 

Lack of Policies on Rare Diseases in the Member States 

Within  the  Member  States,  there  is  fragmentation  of  the  limited  resources  available  for  rare 
diseases, thus it is essential to have a specific plan to concentrate and make efficient use of these 
resources  that  would  otherwise  fall  below  the  threshold  for  efficacy.  The  lack  of  specific  health 
policies  for  rare  diseases  and  the  scarcity  of  the  expertise,  translate  into  delayed  diagnosis  and 
difficult access to care.  

2.3. 

Lack of Effective Healthcare, Research, and Regulation for Rare Diseases in Europe 

2.3.1. 

Inequitable Access to Expert Healthcare 

There is a lack of reference networks and access to care, resources, and expertise that may well only 
be available in another Member State. 

2.3.2.  Fragmented Research 

There is a very close link between research and the possibilities for diagnosis and treatment of rare 
diseases. Therefore, further research on rare diseases is needed but is hampered by inefficiency and 
fragmentation of the limited resources available. 

2.3.3. 

Insufficient Legislative Framework 

The  current  EU  legislative  framework  is  poorly  adapted  to  rare  diseases.  Relevant  existing 
Community  legislation,  for  example  on  clinical  trials  and  marketing  authorisation  of  medicinal 
products, is proving unsuitable and insufficient when applied to rare diseases. 

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2.4. 

Subsidiarity 

There  is  probably  no  other  area  in  public  health  in  which  27  national  approaches  could  be 
considered as inefficient and ineffective as with rare diseases. The reduced number of patients for 
these  diseases  and  the  need  to  mobilise  resources  means  the  scale  and  nature  of  effective  action 
requires  action  at  European  level,  in  accordance  with  Article  152  of  the  Treaty  establishing  the 
European Community. 

It is not feasible to have a centre for every disease in every MS due to the high levels of resources 
that  would  be  required.  The  idea  is  that  the  expertise,  rather  than  the  patients,  should  travel  – 
although patients should also be able to travel to the centres if they need to. 

2.4.1.  Necessity Test 

Member  States  have  the  prime  responsibility  for  protecting  and  improving  the  health  of  their 
citizens. As part of that responsibility, it is for them to decide on the organisation and delivery of 
health services and medical care to patients suffering from a rare disease. However, the fundamental 
aims  of  the  EU  in  terms  of  free  movement  of  patients,  equitable  recognition  of  diseases,  and 
equitable  access  to  safe  and  efficient  orphan  drugs  or  cooperative  research  on  rare  diseases, 
necessarily have an EU health dimension. 

A  key  reason  for  taking  action  now  on  rare  diseases  is  the  current  revision  of  the  International 
Classification of Diseases (ICD). The new ICD-11 also aims to include rare diseases and to do this 
effectively from a European perspective there needs to be a central coordinating point. 

2.4.2.  Added-Value Test 

The EU can add value through a wide range of activities. These include working to reach critical 
mass or obtain economies of scale—for example sharing information on rare diseases where only a 
small  number  people  are  affected 
in  each  Member  State—or  performing  collaborative 
multidisciplinary  research,  which  proves  the  most  efficient  way  to  better  understand  the  diseases 
and  develop  preventive,  diagnostic  and  therapeutic  methods.  Clear  added-value  examples  can  be 
identified in the following four areas: 

•  Reducing Inequities in Health in the EU 

•  Creating  a  Coherent  Framework  for  Identification  of  Rare  Diseases  and  Europe-wide 

information sharing; 

•  Added-value of a new EU approach on rare diseases, improving information, identification and 

knowledge on rare diseases to set a strong basis for diagnosis and care of patients; 

•  Creating an Improved Framework for Research on Rare Diseases 

3. 

OBJECTIVES 

The  overall  objective  for  Community  action  on  rare  diseases  is  to  support  Member  States  in 
ensuring effective and efficient recognition, prevention, diagnosis, treatment, care, and research for 
rare  diseases.  This  is  supported  by  the  Commission’s  strategic  goals  of  prosperity,  solidarity,  and 
security. This is to be achieved through three specific objectives. 

3.1. 

Improving Recognition and Visibility on Rare Diseases 

The  key  to  improving  overall  strategies  for  rare  diseases  is  to  ensure  that  they  are  recognised,  so 
that all the other linked actions can follow appropriately. The EU should cooperate closely with the 
WHO  in  the  process  of  revising  the  existing  ICD  in  order  to  ensure  a  better  codification  and 
classification of rare diseases. 

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3.2. 

Supporting Policies on Rare Diseases in the Member States 

Efficient  and  effective  action  for  rare  diseases  depends  on  a  coherent  overall  strategy  for  rare 
diseases  mobilising  scarce  and  scattered  resources  in  an  integrated  and  well-recognised  way,  and 
integrated into a common European effort. That common European effort itself also depends on a 
common approach to work on rare diseases across the EU, in order to establish a shared basis for 
collaboration. 

3.3. 

Developing European Cooperation, Coordination, and Regulation for Rare Diseases 

The  Community  should  aim  to  better  coordinate  the  policies  and  initiatives  at  EU-level,  and  to 
strengthen  the  cooperation  between  EU  programmes,  in  order  to  maximise  further  the  resources 
available for rare diseases at Community level, in particular to ensure: 

–  effective coordination of research and technological development;  

–  access to appropriate expert healthcare to, as well as specialised and adapted social services for 

rare disease patients; 

–  and  adaptation  of  the  framework  of  legislation  and  action  at  Community  level  to  the  specific 

needs of rare disease. 

4. 

POLICY OPTIONS 

4.1. 

Baseline Option 

Continuing  with  project-based  work  without  a  European  reference  point  within  current  legal 
framework 

Under this option, the Commission would continue to support individual projects aiming to improve 
the  recognition  and  visibility  of  rare  diseases,  without  providing  formal  guidance  or 
recommendation to Member States regarding how to ensure efficient and effective strategies. 

4.2. 

Commission Communication and Proposal for a Council Recommendation 

Under  this  option,  the  Commission  would  provide  a  formal  statement  of  the  definition  of  rare 
diseases  within  the  EU,  and  set  out  its  intentions  for  recognition  and  visibility  of  rare  diseases  at 
European and global level and set out an overall strategy for European work on rare diseases.  

The  Commission  would  also  propose  a  Recommendation  of  the  Council,  recommending  that 
Member States establish coherent and comprehensive national strategies for rare diseases. 

4.3. 

Re-establish Formal Rare Diseases Programme 

Under this option, the Commission would propose establishing a specific programme with a single 
detailed  strategy  for  rare  diseases  healthcare  at  Community  level.  The  programme  would  be 
established  under  Article  152  of  the  Treaty,  in  order  to  take  forward  specific  projects  on  rare 
diseases  in  a  similar  way  to  the  previous  specific  programme  on  rare  diseases.  The  Commission 
could also adopt measures under the Statistical Regulation of the European Parliament and of the 
Council on Community statistics on public health and health and safety at work in order to put in 
place a binding legal requirement for the collection of data on rare diseases by the Member States. 

5. 

ANALYSIS OF IMPACTS 

5.1. 

Social Impacts 

Given the complexity and time-consuming nature of establishing national strategies from scratch in 
the  Baseline  Option,  it  seems  unlikely  that  without  providing  a  clear  reference  point  bringing 

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together  existing  best  practices from  across  the  Union,  Member  States  would  be  able  to  establish 
such strategies. This could lead to even greater inequities developing between the Member States. 

A Council Recommendation would provide a formal legal and political commitment to the Member 
States whilst maintaining flexibility in the implementation. This approach is specifically provided 
for in Article 152 as an appropriate tool in the health area, balancing effective guidance and shared 
commitment  with  respect  for  subsidiarity.  This  would  lead  to  greater  equity  and  quality  in  the 
provision  and  access  of  services,  and  thus  have  a  positive  effect  on  the  health  of  the  population 
within the Member States. 

The  re-establishment  of  a  formal  rare  disease  programme  would  offer  very  little  increase  in  the 
efficiency of actions compared to a Commission strategy. Thus, re-establishing a formal programme 
would not offer significant advantages over the other options outlined. 

5.2. 

Environmental Impact 

Due  to  the  nature  of  the  initiative,  the  environmental  impact  is  negligible,  and  will  not  be 
considered further. 

5.3. 

Economic Impacts 

Successful intervention on rare diseases could also have economic impact in improving efficiency 
and effectiveness in the use of resources for rare diseases. The establishment of the French multi-
annual (2005-2008) strategy for rare diseases will cost €86.66m with a further €20m to be spent on 
research. The budgetary consequences for public authorities in establishing these strategies without 
guidance and a European approach make the Baseline Option nonviable for many Member States. 

The  technical  work  for  Council  Recommendation  option  can  be  taken  forward  with  support  from 
the  existing  health  programme,  and  by  centralising  efforts,  which  will  be  more  efficient  and  less 
burdensome for national health systems and public authorities. Improving the efficiency of action to 
address  rare  diseases  will  bring  significant  benefits  both  for  the  individual  patients  and  for  the 
efficient use of resources for health systems overall. Given the non-binding nature of the initiative, 
the likely impacts are not expected to be burdensome to any group or sector. 

The administrative burden on public authorities of requiring data for the 5 000-8 000 rare diseases 
from  throughout  the  Union,  as  proposed  in  the  third  option,  would  be  substantial.  The  additional 
cost of integrating data collection on rare diseases into the European statistical system would also 
be  substantial.  This  option  would  also  raise  questions  about  subsidiarity,  given  the  differences  in 
organisation and delivery of health services and medical care throughout the Union. Although areas 
such  as  research  and  technological  development  would  benefit,  to  re-establish  a  formal  EU 
programme on rare diseases would require a substantial level of funding to be viable, therefore this 
does not appear to be the most efficient approach. 

6. 

COMPARING THE OPTIONS 

6.1. 

Improving Recognition and Visibility of Rare Diseases 

Baseline Option 

Advantages 

Better identification & 
categorisation 

Commission 
Communication 

Compulsory 
Requirement for 
Data Collection 

Improved recognition; 
engagement of relevant 
stakeholders; adoption 
of the results. 

Improved evidence 
base; improved public 
health monitoring; 
improved & more 

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Disadvantages  Reduced likelihood of 

classifications being adopted; 
duplication & inefficiency of 
work; continued inequities in 
access to care. 

Depends on 
collaboration of a wide 
range of stakeholders to 
succeed. 

6.2. 

Supporting Policies on Rare Diseases in the Member States 

equitable services 
provision. 

High administrative 
burden; high cost of 
integration into 
statistical system; 
disproportionate level 
of action. 

Baseline Option 

Council 
Recommendation 

EU-Level Healthcare 
Strategy for RD 

Advantages 

Maximum flexibility for 
Member States to organise 
health systems as they wish. 

Disadvantages  Inequities in access & quality 

of healthcare persist; lack of 
clear reference point; 
inefficient establishment of 
national strategies; resources 
remain fragmented. 

Formal legal & 
political commitment; 
maintain flexibility; 
increased efficiency & 
efficacy of actions; 
pooling of resources. 

No legal requirement 
for Member States to 
comply. 

Detailed guidance at 
EU-level; more 
effective in detailing 
best practice; increased 
healthcare provision. 

Significant 
restructuring of 
national health 
systems; issues with 
subsidiarity. 

6.3. 

Developing European Cooperation, Coordination, and Regulation for Rare Diseases 

Baseline Option 

Commission 
Communication 

Re-establish Rare 
Diseases Programme 

Advantages 

Avoids any need for 
redirection of existing 
Community actions.  

Disadvantages  Continuing actions inefficient; 

lead to greater inequities; 
resources remain limited and 
scattered. 

Improve equity in 
access to & quality of 
healthcare provision; 
enhance cross-border 
cooperation; decrease 
in mortality & 
morbidity; reduce 
inefficiencies; 
stimulate research; 
facilitated introduction 
of technology. 

Depends on 
cooperation across a 
wide range of 
programmes and actors 

Provides political 
visibility of 
Community funding. 

Substantial level of 
funding required (not 
available under 
existing financial 
perspectives); lack of 

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at Community level. 

integration in other 
policy areas; 
inefficient approach. 

6.4. 

Summary 

On this basis, the preferred option is to bring forward proposals for a Community strategy for rare 
diseases set out in a Commission Communication, with a shared commitment to be sought through 
an accompanying proposal for a Recommendation of the Council on establishment of coherent and 
comprehensive strategies for rare diseases based on Article 152 TEC. 

7. 

MONITORING AND EVALUATION 

7.1. 

Data Collection 

A  Data  Set  for  Rare  Diseases  Indicators  will  be  established  based  on  the  ongoing  works  of  the 
technical  support  structures.  The  Data  Set  would  cover  the  following  areas  (an  indicative,  non-
comprehensive list only): 

•  Demography, Epidemiology, and Health Status 

•  Determinants of Health and Socio-economic Factors  

•  Health Services 

•  Research and Technology Development 

•  Equity, Regional Differences, and EU Initiatives 

7.2. 

Comitology and Monitoring Mechanism 

An EU Advisory Committee on Rare Disease (EUACRD) would be created in order to accomplish 
the tasks currently performed  by  the  EU Rare Disease Task Force. The future  EUACRD  shall be 
composed of representatives of the 27 MS, incorporating experts from the Health Programme and 
FP Projects, representatives of the patient's organisations, representatives from industry, and other 
interested bodies. 

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