The Nova SBE Health Economics & Management Knowledge Center has prepared a detailed contribution document with comments and suggestions on the proposal "Action for Rare Diseases: From Strategy to People 2025-2030" (ADR 25-30), currently under public consultation.

Authors: Céu Mateus, Constança Roquette, Maria Pessoa, Pedro Pita Barros, and Raquel Souto

This document was submitted as part of the public consultation promoted by the Portuguese National Health Service and is available in portuguese here.

For more information about the public consultation, visit the official link: Consulta Pública sobre o Plano de Ação para as Doenças Raras 2025-2030.

Notes: 

1. This document aims to contribute to enriching the proposal "Action for Rare Diseases: From Strategy to People 2025-2030 (ADR 25-30)," whose development and subsequent adoption are recognized by the authors as highly relevant. The contributions listed here are organized into general comments and specific comments on various points and chapters contained in the "Action."  

2. In summary, the general comments focus on the need to include the prevention of rare diseases of genetic origin (preimplantation diagnostics) and the absence of a monitoring plan for the implementation of the goals, as well as the identification of the necessary resources.  

3. Regarding specific points throughout the "Action," some main suggestions stand out: it is considered important to adapt existing tools to be inclusive of People with Rare Diseases (PwRD), namely indicators based on results and the experiences of PwRD, as well as the integration of coding into the DRG database, thus making it available on existing platforms.  

4. Along the same lines, it is suggested that the creation of the data lake be integrated into existing European initiatives.  

5. It is also considered relevant to evaluate the current Reference Centers, as well as to reflect on their geographic distribution and the guarantee of access for PwRD.  

6. The integration of care for PwRD must be well aligned with the current management and funding model of Local Health Units (ULS), with a guarantee of data sharing and continuous treatment for these patients.  

7. It is also suggested that PwRD be involved and actively participate in the entire research process, and not only passively in clinical trials.  

8. Regarding the training and capacity building of healthcare professionals, it is suggested that the existing European/international network be taken into account. For family doctors of people with PwRD, it is essential that they have access to information and knowledge sharing with the respective reference centers, so they can provide adequate care to the person they accompany. Similarly, there should be well-structured, regularly updated information that is easily accessible to anyone.  

9. Finally, it is suggested that the creation and implementation of CIDRa be monitored, using a continuous improvement approach, and that there be regular and automatic dissemination (via the internet, for example) to enable public scrutiny.