Source: EURLEX
Language: en
Format: md

**EN**

# **EN EN**

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}

# **EN EN**

**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. Introduction.................................................................................................................. 4

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

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

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

2.3. 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. Objectives..................................................................................................................... 5

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

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

3.3. Developing European Cooperation, Coordination, 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 Diseases in the Member States....................................... 8

6.3. Developing European Cooperation, Coordination, 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

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**1.** **I** **NTRODUCTION**

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 socioeconomic 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.** **P** **ROBLEM** **D** **EFINITION**

**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.** **O** **BJECTIVES**

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.** **P** **OLICY** **O** **PTIONS**

**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.** **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 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 multiannual (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.** **C** **OMPARING THE** **O** **PTIONS**

**6.1.** **Improving Recognition and Visibility of Rare Diseases**

|Col1|Baseline Option|Commission<br>Communication|Compulsory<br>Requirement for<br>Data Collection|
|---|---|---|---|
|**Advantages**|Better identification &<br>categorisation|Improved recognition;<br>engagement of relevant<br>stakeholders; adoption<br>of the results.|Improved evidence<br>base; improved public<br>health monitoring;<br>improved & more|

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|Col1|Col2|Col3|equitable services<br>provision.|
|---|---|---|---|
|**Disadvantages**|Reduced likelihood of<br>classifications being adopted;<br>duplication & inefficiency of<br>work; continued inequities in<br>access to care.|Depends on<br>collaboration of a wide<br>range of stakeholders to<br>succeed.|High administrative<br>burden; high cost of<br>integration into<br>statistical system;<br>disproportionate level<br>of action.|

**6.2.** **Supporting Policies on Rare Diseases in the Member States**

|Col1|Baseline Option|Council<br>Recommendation|EU-Level Healthcare<br>Strategy for RD|
|---|---|---|---|
|**Advantages**|Maximum flexibility for<br>Member States to organise<br>health systems as they wish.|Formal legal &<br>political commitment;<br>maintain flexibility;<br>increased efficiency &<br>efficacy of actions;<br>pooling of resources.|Detailed guidance at<br>EU-level; more<br>effective in detailing<br>best practice; increased<br>healthcare provision.|
|**Disadvantages**|Inequities in access & quality<br>of healthcare persist; lack of<br>clear reference point;<br>inefficient establishment of<br>national strategies; resources<br>remain fragmented.|No legal requirement<br>for Member States to<br>comply.|Significant<br>restructuring of<br>national health<br>systems; issues with<br>subsidiarity.|

**6.3.** **Developing European Cooperation, Coordination, and Regulation for Rare Diseases**

|Col1|Baseline Option|Commission<br>Communication|Re-establish Rare<br>Diseases Programme|
|---|---|---|---|
|**Advantages**|Avoids any need for<br>redirection of existing<br>Community actions.|Improve equity in<br>access to & quality of<br>healthcare provision;<br>enhance cross-border<br>cooperation; decrease<br>in mortality &<br>morbidity; reduce<br>inefficiencies;<br>stimulate research;<br>facilitated introduction<br>of technology.|Provides political<br>visibility of<br>Community funding.|
|**Disadvantages**|Continuing actions inefficient;<br>lead to greater inequities;<br>resources remain limited and<br>scattered.|Depends on<br>cooperation across a<br>wide range of<br>programmes and actors|Substantial level of<br>funding required (not<br>available under<br>existing financial<br>perspectives); lack of|

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**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.** **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 following areas (an indicative, noncomprehensive 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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