EN    EN EN 
 
EN    EN  COMMISSION OF THE E UROPEAN COMMUNITIES 
Brussels, 11.11.2008 
SEC(2008) 2713 final 
  
COMMISSION STAFF WORKING DOCUMENT 
Summary of the Impact Assessment 
Accompanying the 
COMMUNICATION FROM THE COMMISSI ON TO THE COUNCIL, THE 
EUROPEAN PARLIAMENT, THE EU ROPEAN ECONOMIC AND SOCIAL 
COMMITTEE AND THE COMMI TTEE OF THE REGIONS 
On 
Rare Diseases: Europe's challenges 
{COM(2008)679} 
{SEC(2008)2712} 
 
 
EN 2   EN COMMISSION STAFF WORKING DOCUMENT 
Summary of the Impact Assessment 
Accompanying the 
COMMUNICATION FROM THE COMMISSI ON TO THE COUNCIL, THE 
EUROPEAN PARLIAMENT, THE EU ROPEAN ECONOMIC AND SOCIAL 
COMMITTEE AND THE COMMI TTEE OF THE REGIONS 
On 
Rare Diseases: Europe's challenges 
 
EN 3   EN TABLE OF CONTENTS 
1. Introduction................................................................................................................ .. 4 
2. Problem Definition....................................................................................................... 4 2.1. Lack of Recognition and Visibility of Rare Diseases .................................................. 4 2.2. Lack of Policies on Rare Dis eases in the Member States ............................................ 4 
2.3. Lack of Effective Healthcar e, 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. Objectives.................................................................................................................. ... 5 
3.1. Improving Recognition and Visibility on Rare Diseases............................................. 5 3.2. Supporting Policies on Rare Diseas es in the Member States....................................... 6 
3.3. Developing European Cooperation, Coordina tion, and Regulation for Rare Diseases 6 
4. Policy Options.............................................................................................................. 6 
4.1. Baseline Option........................................................................................................... .6  
4.2. Commission Communication and Proposal  for a Council Recommendation.............. 6 
4.3. Re-establish Formal Rare Diseases Programme .......................................................... 6 5. Analysis of impacts...................................................................................................... 6 5.1. Social Impacts ............................................................................................................ .. 6 
5.2. Environmental Impact.................................................................................................. 7 5.3. Economic Impacts........................................................................................................ 7 6. Comparing the Options ................................................................................................ 7 6.1. Improving Recognition and Visibility of Rare Diseases.............................................. 7 6.2. Supporting Policies on Rare Diseas es in the Member States....................................... 8 
6.3. Developing European Cooperation, Coordina tion, and Regulation for Rare Diseases 8 
6.4. Summary ................................................................................................................... ... 9 
7. Monitoring and evaluation ........................................................................................... 9 7.1. Data Collection........................................................................................................... .. 9 
7.2. Comitology and Monitoring Mechanism..................................................................... 9 
 
EN 4   EN 1. I NTRODUCTION  
Rare diseases are life-threatening or chronically de bilitating diseases with  a low prevalence and a 
high level of complexity. Most of them are gene tic diseases, the others  being rare cancers, 
autoimmune diseases, congenital malformations , toxic and infectious  diseases, among other 
categories. They call for a global approach base d on specific and combin ed efforts to prevent 
significant morbidity or avoidabl e premature mortality, and to im prove quality of life or socio-
economic potential of affected persons. 
The prevalence for a rare diseas e is currently defined as aff ecting no more than 5 per 10 000 
persons in the European Union. Whilst this pr evalence 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 be tween 5 000 and 8 000 distinct rare diseases that affect up to 6% 
of the total EU population at one po int in life. In other words, this equates to between 29 and 36 
million people in the 27 MS that are affecte d, or will be affected, by a rare disease. 
2. P ROBLEM DEFINITION  
2.1. Lack of Recognition and Vi sibility of Rare Diseases 
Although rare diseases heavily cont ribute 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 syst ems thus imposes medical and financial barriers to 
receiving treatment for an unrecognised disease that consequently lack s allocated funds and 
resources, thus creating a cycle that maintains th e current inefficiency. Furthermore, misdiagnosis 
and non-diagnosis are the main hur dles to improving life-quality fo r thousands of rare disease 
patients.  
2.2. Lack of Policies on Rare Di seases in the Member States 
Within the Member States, there is fragmenta tion of the limited resour ces available for rare 
diseases, thus it is essential to have a specific pl an to concentrate and make efficient use of these 
resources that would otherwise fa ll below the threshold for efficacy. The lack of specific health 
policies for rare diseases and the scarcity of th e expertise, translate in to delayed diagnosis and 
difficult access to care.  
2.3. Lack of Effective Healthcare, Research, a nd Regulation for Rare Diseases in Europe 
2.3.1. Inequitable Access to Expert Healthcare There is a lack of reference ne tworks 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 th e possibilities for diagnosis  and treatment of rare 
diseases. Therefore, further resear ch 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 tr ials and marketing authorisation of medicinal 
products, is proving unsuitable and insuffici ent when applied to rare diseases. 
 
EN 5   EN 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 diseas e in every MS due to the high levels of resources 
that would be required. The idea is that the expertise, rather th an 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 fo r protecting and improving the health of their 
citizens. As part of that respons ibility, it is for them to decide on the organi sation and delivery of 
health services and medical care to patients sufferi ng from a rare disease. However, the fundamental 
aims of the EU in terms of free movement of patients, equitable rec ognition of diseases, and 
equitable access to safe and effi cient orphan drugs or cooperativ e research on rare diseases, 
necessarily have an EU health dimension. 
A key reason for taking action now  on rare diseases is the curren t revision of the International 
Classification of Diseases (ICD). Th e new ICD-11 also aims to include  rare diseases and to do this 
effectively from a European perspective ther e 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 worki ng to reach critical 
mass or obtain economies of scale—for example shar ing 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 e fficient way to better understand the diseases 
and develop preventive, diagnosti c 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 Identific ation of Rare Diseases and Europe-wide 
information sharing; 
• Added-value of a new EU approach on rare di seases, improving information, identification and 
knowledge on rare diseases to set a strong basis for diagnosis a nd care of patients; 
• Creating an Improved Framework fo r Research on Rare Diseases 
3. O
BJECTIVES  
The overall objective for Community action on rare  diseases is to support Member States in 
ensuring effective and efficient recognition, preven tion, diagnosis, treatment, care, and research for 
rare diseases. This is supported by the Commission’ s strategic goals of pr osperity, solidarity, and 
security. This is to be achieved  through three specific objectives. 
3.1. Improving Recognition and Vi sibility on Rare Diseases 
The key to improving overall strategies for rare dis eases is to ensure that  they are recognised, so 
that all the other linked actions can follow appropriately. The EU s hould 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. 
 
EN 6   EN 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 th e EU, in order to establish a shared basis for 
collaboration. 
3.3. Developing European Cooperation, Coordi nation, and Regulation for Rare Diseases 
The Community should aim to better coordinate th e 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 Commun ity level, in particular to ensure: 
– effective coordination of research  and technological development;  
– access to appropriate expert healthcare to, as well as specialised and adapte d 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. P
OLICY OPTIONS  
4.1. Baseline Option 
Continuing with project-based wo rk without a European referen ce point within current legal 
framework 
Under this option, the Commission would continue to  support individual proj ects 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 Prop osal for a Council Recommendation 
Under this option, the Commission would provide a formal statemen t 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 se t out an overall strategy for Eur opean work on rare diseases.  
The Commission would also propose a Recomme ndation of the Council, recommending that 
Member States establish coherent and comprehe nsive national strategies for rare diseases. 
4.3. Re-establish Formal Rare Diseases Programme 
Under this option, the Commission would propose es tablishing a specific programme with a single 
detailed strategy for rare diseases healthcare  at Community level. The programme would be 
established under Article 152 of th e Treaty, in order to take forward specific projects on rare 
diseases in a similar way to the previous sp ecific programme on rare diseases. The Commission 
could also adopt measures under the Statistical Re gulation of the European Parliament and of the 
Council on Community statistics on pub lic 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. A NALYSIS 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 wit hout providing a clear re ference point bringing 
 
EN 7   EN together existing best practices from across the Union, Member Stat es would be able to establish 
such strategies. This could lead to even greater  inequities developing be tween the Member States. 
A Council Recommendation would provide a formal le gal and political commitment to the Member 
States whilst maintaining flexibility in the impl ementation. This approach is specifically provided 
for in Article 152 as an appropriate tool in the h ealth area, balancing eff ective guidance and shared 
commitment with respect for subs idiarity. This would lead to gr eater equity and quality in the 
provision and access of services, and thus have a posit ive effect on the health of the population 
within the Member States. 
The re-establishment of a formal rare disease progr amme 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 envi ronmental impact is negligible, and will not be 
considered further. 
5.3. Economic Impacts 
Successful intervention on rare dise ases could also have economic impact in improving efficiency 
and effectiveness in the use of resources for rare  diseases. The establishm ent 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 author ities in establishing these strategies without 
guidance and a European approach make the Ba seline Option nonviable for many Member States. 
The technical work for Council Recommendation op tion can be taken forward with support from 
the existing health programme, and by centralising efforts, which will be mo re efficient and less 
burdensome for national health systems and public au thorities. Improving the e fficiency of action to 
address rare diseases will bring significant benefits both for the individual patients and for the efficient use of resources for hea lth systems overall. Given the non-bi nding 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 Europ ean statistical system would also 
be substantial. This option would also raise ques tions about subsidiarity, given the diffe rences in 
organisation and delivery of health services and medical care throughout the Union. Although areas 
such as research and technological development would benef it, to re-establish a formal EU 
programme on rare diseases would re quire a substantial level of fundi ng to be viable, therefore this 
does not appear to be the most efficient approach. 
6. C
OMPARING THE OPTIONS  
6.1. Improving Recognition and Vi sibility of Rare Diseases 
 Baseline Option Commission 
Communication Compulsory 
Requirement for Data Collection 
Advantages Better identification & 
categorisation Improved recognition; 
engagement of relevant 
stakeholders; adoption 
of the results. Improved evidence 
base; improved public health monitoring; 
improved & more 
 
EN 8   EN equitable services 
provision. 
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. High administrative 
burden; high cost of integration into statistical system; disproportionate level of action. 
6.2. Supporting Policies on Rare Diseases in the Member States 
 Baseline Option Council 
Recommendation EU-Level Healthcare 
Strategy for RD 
Advantages Maximum flexibility for 
Member States to organise health systems as they wish. Formal legal & 
political commitment; 
maintain flexibility; 
increased efficiency & 
efficacy of actions; 
pooling of resources. Detailed guidance at 
EU-level; more effective in detailing best practice; increased healthcare provision. 
Disadvantages Inequities in access & quality 
of healthcare persist; lack of clear reference point; inefficient establishment of national strategies; resources remain fragmented. No legal requirement 
for Member States to 
comply. Significant 
restructuring of national health systems; issues with subsidiarity. 
6.3. Developing European Cooperation, Coordina tion, and Regulation for Rare Diseases 
 Baseline Option Commission 
Communication Re-establish Rare 
Diseases Programme 
Advantages Avoids any need for 
redirection of existing Community actions.  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. Provides political 
visibility of Community funding. 
Disadvantages Continuing actions inefficient; 
lead to greater inequities; resources remain limited and scattered. Depends on 
cooperation across a 
wide range of 
programmes and actors Substantial level of 
funding required (not available under existing financial perspectives); lack of 
 
EN 9   EN 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 co mmitment 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. M ONITORING 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 follo wing areas (an indicative, non-
comprehensive list only): 
• Demography, Epidemiology, and Health Status 
• Determinants of Health a nd 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 (EUAC RD) 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, incor porating experts from the Health Programme and 
FP Projects, representatives of th e patient's organisations, represen tatives from industry, and other 
interested bodies.