The view of experts on initiatives to be undertaken to promote equity in the access to orphan drugs and specialised care for rare diseases in Spain: A Delphi consensus.

OBJECTIVES: To reach a consensus amongst experts on the most feasible actions to be undertaken to facilitate patient access to specialised care and orphan drugs (OD) in the public health sector in Spain. METHODS: Two Delphi rounds were completed. The questionnaire was based on a literature review and 2 focus groups. Agreement was sought on the desire (D) and prognosis (P) for the implementation within the next 5 years, on a 5-point Likert scale. Consensus was reached when ≥75% participants chose agreement (1-2) or disagreement options (4-5). RESULTS: 82 experts on rare disease (RD) participated. Agreement on the D and P was reached in 66.07% statements: OD pricing review [absence of clinical effectiveness (D:85.37%; P:85.90%), target population increase (D:79.27%; P:91.03%)]; reference team definition of referral protocols and clinical practice guidelines (D: 97.56%; P: 89.74%); and a unified, usable, etiology-based registry (D:97.56%; P:84.62%). D and P assessment diverged in 32.14% items: creation of a specific funding system for OD (D: 97.56%; P: 60.25%); and a network of medical teams to coordinate the care of RD patients (D: 99%; P: 62%). CONCLUSIONS: The results have shown the need to promote dialogue between stakeholders, introduce European recommendation to national and regional Spanish policies and set up priorities and undertake actions to drive relevant changes in current medical practice in managing RD patients.

[Rare Diseases: chronic diseases that need a new approach]. / Enfermedades raras: enfermedades crónicas que requieren un nuevo enfoque sociosanitario.

The concept of Rare Diseases is relatively new. They are those processes "...that can be mortal or to cause a chronic weakening of the patient and who, due to its little prevalence, require combined efforts to treat them. For indicative purposes, a little prevalence is considered when is lesser than 5 cases per 10,000 people in the Community". The existence of these diseases is closely tied with orphan drugs, meaning all drugs, prosthesis, biological agents or dietetic preparations destined to the treatment of a Rare Disease. Besides, it is necessary to add two factors more: 1. The Primary Attention physicians do not feel very motivated in their knowledge and 2. These diseases need a complex sociosanitary attention, habitually more expensive than chronic diseases. By all exposed the Rare Diseases appear like a universe that requires a new sociosanitary approach from the health system.