Andalucía approves new care plan for people affected by rare diseases

The regional government's governing council of ministers approved on Tuesday its 'care plan for people affected by rare diseases in Andalucía', through which the Junta is giving new impetus to strengthening care for rare or low-prevalence diseases within the region's public healthcare system.

As detailed by the Junta in a press release, with an investment of 8.7 million euros, the plan "is structured around seven strategic lines with over 100 measures at both primary and specialised care levels, with clear indicators that will allow for annual evaluation of its implementation in providing a real response to the needs of people with rare diseases and their families."

The first strategic line is aimed at improving the management of information and resources through a data system and a registry to improve knowledge of rare diseases and available services.

The second focuses on prevention and early diagnosis, strengthening screening programmes and ensuring the necessary resources are in place for adequate and personalised care from the earliest stages of the disease.

Another strategic focus is on comprehensive care, prioritising faster diagnosis and more "humane" and personalised attention for patients and the families caring for them. Regarding therapies, within these strategic lines, the plan includes measures to expand treatment coverage, reduce waiting times and improve treatment suitability.

Similarly, research and training for healthcare professionals will be strengthened. Finally, as a last pillar, the plan aims to bolster patient advocacy groups by increasing their visibility, supporting training in care and self-care and fostering spaces for dialogue between government agencies, associations, affected individuals and relatives, "a role that has also been fundamental in the development of this plan".

Among the 109 measures to be implemented to achieve a total of 15 general and 36 specific objectives, the following are notable: the incorporation of information systems to facilitate the suspicion, diagnostic confirmation and follow-up of rare diseases, the development of models for digital tools that enable early detection, the improvement of the integration of genetic information into electronic medical records and also the establishment of criteria to identify cases in which telemedicine can be considered as a healthcare option.

Also noteworthy are the implementation of preconception counselling in primary care, the expansion of non-invasive prenatal testing of pregnant women who meet the risk threshold of 1/500 in the first two years of the plan's rollout and assessing the risk threshold of one in 1,000 thereafter, and the inclusion of new diseases in early detection through neonatal screening.

An action plan will also be designed for cases of undiagnosed rare diseases and the protocols common to genetics units and clinical reference units for rare diseases will be updated.

Furthermore, the plan envisages the creation of multidisciplinary rare disease units in each healthcare area or, failing that, in the main hospitals. These units will coordinate those cases suspected of having a rare condition, but whose nature does not allow for classification within a specific speciality, with other specialities and primary care.

Similarly, multidisciplinary technical coordination committees will be set up at provincial level with the participation of professionals from healthcare centres, assessment and guidance centres, educational centres and early childhood intervention centres.

In this regard, the new roadmap for Andalucía in this area includes the coordination of the therapeutic area for rare diseases through the regional commission for the rational use of medicines within the public healthcare system and the creation of a specific training platform for the exchange of specialised knowledge on rare diseases and their treatments.

As for research, calls for research proposals will include criteria that give priority to research groups dedicated to the field of rare diseases. Training and awareness-raising of primary care professionals regarding the suffering linked to rare diseases will also be strengthened.

Therefore, the care provided to people with rare diseases and their families will be improved through mental health support. Care for patients with rare diseases will also be incorporated into the portfolio of podiatry services in primary care.

Rare diseases represent "one of the greatest challenges facing the healthcare system", with nearly 7,000 pathologies currently registered, affecting nearly half a million people in Andalucía. Most of these diseases are of genetic origin, which has become an essential tool for making advances in prevention, early diagnosis and personalised treatments and represents a clear commitment by the Junta.

Thus, in recent years "firm steps have been taken to strengthen genetic care, genetic counselling programmes have been implemented in all provinces and access to innovative technologies such as next-generation sequencing has been guaranteed in public hospitals". In addition, improvements in pre-analytical procedures have allowed for "a 30% reduction in waiting times for genetic testing, a significant advance for patients and their families".

Special mention should be made of the fact that, in 2024 and 2025, Andalucía has updated its portfolio of genetic services, incorporating advanced tests for the early diagnosis of hereditary diseases, including most rare diseases. This measure represents a decisive step towards "more modern, equitable and effective care".

"Care for these conditions is also supported by a robust network of specialised units". Andalucía currently has 49 such centres, services and units (CSUR) within the national healthcare system, of which 23 are directly linked to rare diseases. In addition, there are regional 'reference units' for conditions such as ALS, cystic fibrosis, porphyrias and spasmodic dysphonia, making the total number of units currently linked to rare diseases within the Andalusian public healthcare system to 35.

Ten of these centres are part of leading European networks, placing Andalucía in a "prominent position both nationally and internationally".