Shared decision making in rare diseases: an overview

Jeanette Pérez-Ramos, Analía Abt-Sacks, Lilisbeth Perestelo-Pérez, Amado Rivero-Santana, Ana Toledo-Chávarri, Nerea González, Pedro Serrano-Aguilar


Patients with rare diseases often face difficulties in clinical care due to the low prevalence of their diseases and the resulting healthcare providers´ lack of expertise. Valid and standardized guidelines for clinical management are also lacking due to the scarcity of research and the variability of the clinical expressivity within each disease. Clinical decision-making in an uncertainty context should take advantage of involving patients in deeper informational process to promote valid shared decision-making between patients/caregivers and healthcare professionals. This process of patient/caregiver empowerment is a priority in the context of rare diseases, as it encourages acquisition of information that will help improving patient-healthcare professional’s interaction, and building a collaborative relationship. It is also a chance for healthcare professionals to learn about rare diseases from the perspective of patients.

The aim of this article is to conduct an overview of existing studies focused on promoting patients/caregivers empowerment and shared decision-making (using or not decision aids) in the area of rare diseases.


caregivers; decision aids; empowerment; patients; rare diseases; shared decision-making

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