In the European Union, a disease or disorder is defined as rare in Europe when it affects less than 1 in 2,000 persons, according to EURORDIS www.eurordis.org. There are between 6,000 and 8,000 rare diseases, affecting between 6% and 8% of the European Union population. Rare diseases are characterised by a broad diversity of disorders and symptoms, which vary not only from disease to disease but also from patient to patient. Yet medical professionals lack a unified protocol that assists them with treating patients who require out-of-the-ordinary care.
To bridge this gap, the Spanish Society of Family and Community Medicine (Sociedad Española de Medicina Familiar y Comunitaria, semFYC), in cooperation with several other Spanish institutions, has recently released an on-line protocol – the DICE-APER – to improve the Primary Care for patients with Rare Diseases.
“The goal of this protocol is the improvement of diagnosis and information related to these conditions,” said Dr Miguel García Ribes, the coordinator of the Clinical Genetics and Rare Diseases Group, in a recent interview given to El Confidencial. “It also aims to facilitate coordination between the different specialist doctors and provide epidemiological data that allow better health planning, as well as to advance research.”
The DICE-APER protocol recommends a series of steps that a general practitioner or family doctor can follow once the patient has agreed to sign the informed consent . By using the DICE-APER protocol, the diagnosis of the rare disease can be further confirmed and catalogued. The search engine provided in the web site offers a number of links to more specialized pages, allowing a doctor to easily find more detailed information and treatments as well as patient organizations. The DICE-APER protocol also facilitates better coordination between the different medical professionals in contact with the patient. In addition to this, by ensuring a proper register of patients and epidemiology, it provides the health institutions with reliable data.
It is estimated that every Spanish family doctor examines every year between 10 to 15 patients affected by a rare disease. Following the DICE-APER protocol should not represent an additional effort, but provide another tool to help ensure that the care given to patients is correct. Also, medical professionals should explain to patients affected by rare diseases that they can join the registry and why they should do it. The growth of this database will contribute to establishing the real dimensions of this problem and at the same time support researchers and institutions.
To use the DICE-APER protocol, please visit this web site (in Spanish language)
To read more about the Rare Diseases Strategy of the Spanish National Health System, please click here (in English language)