Education and information needs for physicians about rare diseases in Spain.

BACKGROUND: Rare diseases are a priority objective for public health systems. Given its complexity, late and misdiagnoses occur very often which causes mental and physical burden for patients and family. This would be caused, in part, for unprepared clinicians in this field. The aim of this study was to report the training needs and the perceived shortcomings of Spanish physicians of the public health system in the diagnosis, treatment and monitoring of patients with rare diseases. METHODS: We used a descriptive cross-sectional study through an "ad hoc" survey of 26 questions was completed by 132 primary care physicians and 37 specialists during April and May 2018. RESULTS: Less than a third of the physicians had received training in rare disease during their undergraduate or postgraduate years, and for hospital professionals, they received more training in the postgraduate period. CONCLUSION: Primary care physicians and specialists showed low training level in rare diseases. An academical and continuous program on rare disease, as well as, multidisciplinary units and high quality practice guidelines are necessary to help to prevention and support clinical decisions and improve quality of care of patients and families.

General knowledge and opinion of future health care and non-health care professionals on rare diseases.

RATIONALE, AIMS AND OBJECTIVES: The debate about whether to dedicate funds to rare diseases (RD) may hinge on the existence of a societal preference for prioritizing rarity. There are scarce studies about the interest of doctors and general society in RD. METHOD: Four groups of future health and non-health professionals were surveyed in a region of Spain to evaluate their opinion on RD. Questions of the study were organized into four groups: general knowledge on RD, prioritization of research of RD, willingness to assign resources to RD and real distribution of resources to RD. RESULTS: A total of 234 students were surveyed. The mean age of the whole study population was 24.0 years and the 83.3% were female. Only around 25% of the survey sample knew the definitions of RD and orphan drugs. Questions related to willingness to assign resources to RD did not reveal statistically significant differences between study groups. Seventy-three per cent considered that the majority of the budget should be used to treat common diseases. However, resident doctors recognized that they have neither experience nor time to diagnose and treat RD. CONCLUSION: Although resident doctors have a little more general knowledge on RD than other surveyed groups, health and non-health future professionals have a low general knowledge on this topic and none of them prioritized the assignment of funds to RD.