What is it?
This strategy is the instrument which determines what the situation is as regards rare diseases in this country, on a structured basis: it identifies the parties involved, defines the needs and proposes actions to respond to these by means of the joint work of different agents.
The Strategy, part of the SNS quality plan, is a coordination tool for the SNS. Approved in 2009 by the Inter-regional Council of the National Health System (SNS), this is the result of joint agreement by all the agents involved: the Ministry of Health and Social Policy, Autonomous Communities, scientific associations, patients’ associations and representatives of other Ministries.
As was established in this, an initial assessment was made after two years, to appraise the degree of fulfilment of the objectives set, by collecting the data defined in the assessment indicators. This assessment was approved by the CISNS on 20th December 2012. Later on, based on the results of this assessment, a follow-up was made, of both the content and of the possible improvement measures, which was checked and agreed on by the committees for the Strategy during 2013, meaning that the update was passed by the CISNS on 11th June 2014.
Objectives and recommendations (Strategy 2014)
To improve the quality of the work done and results of health services and care as regards rare diseases, the objectives are grouped into the following strategic approaches:
Role of the CIBERER
The Scientific Coordinator of the Strategy is Doctor Francesc Palau, Scientific Director of the CIBERER. The CIBERER itself is represented on the Committee for Monitoring and Implementing the Strategy.
All over Europe, rare diseases have been one of the priorities of health research programmes since 2008 (2nd Programme of Community Action in the Field of Health, 2008-2013) and of the European Commission (2008 Communication on ‘Rare Diseases: Europe’s challenges’, and the 2009 recommendation, with regard to a European action in the field of rare diseases).
To this end, the Commission set up a European Union Committee of Experts on Rare Diseases-EUCERD in late 2009, to assist the European Commission in preparing and implementing different Community activities in the field of rare diseases. In July 2013 this Committee was replaced by the European Commission Expert Group on Rare Diseases-CEGRD, to go on providing backing for developing European policies in this field.
The priorities of this group of experts, and thus of the European policy in rare diseases for the coming years are specialised social services and the integration of RD in social policies, information systems, encoding, genetic diagnosis and mass sequencing techniques, clinical guides for diagnosis and care of research infrastructures, as well as the development and implementation of European Reference Networks for RD.
The EUCERD Joint Action: Working for Rare Diseases is a European project set up to undertake specific tasks providing support for the EUCERD, the “European Union Committee of Experts on Rare Diseases”, in specific matters of interest for this which improve knowledge on Rare Diseases in the European setting. This Joint Action, which started on 1st March 2012 and will provide support for EUCERD work for three years, is financed by the Executive Agency for Health and Consumers (EAHC) and led by professor Kate Bushby, Vice President of the Committee of Experts.
The CIBERER is participating in this project as a partner and coordinator of a study on Quality of Life and Centres of Experts in close cooperation with the Ministry of Health, Social Services and Equality. The main task of the CIBERER in this project is to identify the measures that enable improving access to healthcare with greater quality, covering the whole range of services, from diagnosis, healthcare and rehabilitation, to efficient improvement of the quality of life of Rare Disease sufferers.
For this purpose the CIBERER has studied different initiatives of the Member States intended to improve the quality of life of people suffering from any rare disease. It focuses, amongst other aspects, on identifying good practices existing in the health systems of member States, with special emphasis on the activities located at centres of expertise. In the framework of this project there will also be an analysis of the factors influencing policies on the quality of care in RD, as well as the internal organisation of the health systems to adapt to policies and patients with RD.
Since 2015 CIBERER has been working hard on Joint Action on Rare Diseases (RD ACTION) 2015-2017, providing the continuity for the maintenance and coordination tasks of both Orphanet-España and EUCERD Joint Action. The Centro de Investigación Biomédica en Red de Enfermedades Raras undertakes its activities in this national and international context and as a response to the needs brought up, displaying a high level of commitment with national and community policies in the field of Rare Diseases.