PURPOSE: to
establish national plans for rare diseases and ensure adequate definition of
and research into such diseases.
ACT: Council
Recommendation on an action in the field of rare diseases.
BACKGROUND: it
is estimated that between 5 000 and 8 000 distinct rare diseases
exist today, affecting between 6 % and 8 % of the population in the course of
their lives. In particular, the total number of people affected by rare
diseases in the EU is between 27 and 36 million. Because of their low prevalence,
their specificity and the high total number of people affected, rare diseases
call for a global approach based on special and combined efforts to prevent
significant morbidity or avoidable premature mortality, and to improve the
quality of life and socioeconomic potential of affected persons.
The
Commission, in its White
Paper ‘Together for Health: A Strategic Approach for the EU 2008-2013’ of
23 October 2007, which develops the EU Health Strategy, identified rare
diseases as a priority for action.
CONTENT: the
Council makes a number of recommendations to Member States, notably that
they:
- establish and
implement plans or strategies for rare diseases at the
appropriate level, in order to aim to ensure that patients with rare
diseases have access to high-quality care, and in particular: (i) elaborate
and adopt a plan or strategy by the end of 2013, aimed at guiding and
structuring relevant actions in the field of rare diseases within the
framework of their health and social systems; (ii) take action to
integrate current and future initiatives at local, regional and national
levels into their plans or strategies; (iii) define a limited number of
priority actions; (iv) take note of the development of guidelines and
recommendations for the elaboration of national action for rare diseases
by relevant authorities at national level;
- use a common
definition of rare disease as a disease affecting no more than 5 per
10 000 persons;
- aim to
ensure that rare diseases are adequately coded and traceable in all
health information systems;
- contribute actively
to the development of the EU easily accessible and dynamic inventory of
rare diseases based on the Orphanet network and other existing networks;
- identify ongoing
researchon rare diseases and research resources in the national
and Community frameworks;
- identify needs
and priorities for basic, clinical, translational and social research in
the field of rare diseases and modes of fostering them;
- foster the
participation of national researchers in research projects on rare
diseases funded at all appropriate levels;
- facilitate, together
with the Commission, the development of research cooperation with third
countries active in research on rare diseases;
- identify
appropriate centres of expertise throughout
their national territory by the end of 2013, and consider supporting their
creation;
- foster the
participation of centres of expertise in European reference networks;
- organise healthcare
pathways for patients suffering from rare diseases through the
establishment of cooperation with relevant experts;
- support the
use of information and communication technologies, such as telemedicine,
where it is necessary to ensure distant access to the specific
healthcare needed;
- include in
their plans or strategies the necessary conditions for the diffusion and
mobility of expertise and knowledge;
- encourage centres
of expertise to be based on a multidisciplinary approach to care;
- gather
national expertise on rare diseases and
support the pooling of that expertise with European counterparts in order
to support: (i) the sharing of best practices on diagnostic tools and medical
care; (ii) adequate education and training for all health professionals;
(iii) the development of medical training in fields relevant to the
diagnosis and management of rare diseases; (iv) the development of
European guidelines on diagnostic tests or population screening; (v) the
sharing Member States′ assessment reports on the therapeutic or
clinical added value of orphan drugs at Community level;
- consult
patients and patients′ representatives
on the policies in the field of rare diseases and facilitate patient access
to updated information on rare diseases;
- promote the
activities performed by patient organisations, such as
awareness-raising, capacity-building and training;
- together with
the Commission, aim to ensure, through appropriate funding and
cooperation mechanisms, the long-term sustainability of
infrastructures developed in the field of information, research and
healthcare for rare diseases.
Lastly, the
Council invites the Commission to produce, by the end of 2013 and in order to
allow proposals in any possible future programme of Community action in the
field of health, an implementation report on this recommendation, which should
consider the extent to which the proposed measures are working effectively
and the need for further action to improve the lives of patients affected by
rare diseases and those of their families. The Council also asks to be
informed of the follow-up to the Commission Communication on rare diseases on
a regular basis.