May you briefly introduce yourself to our readers?
My name is Manuel Posada. I am the Director of the Institute of Rare Diseases Research (IIER) at the Institute of Health Carlos III (ISCIII), a governmental research institute in Spain. I am a physician, specialist in Internal Medicine and also in Preventive Medicine and Public Health.
First of all, is there a particular reason for you to be involved in rare diseases activities? When did you first “face” the rare diseases?
During my training for getting the Internal Medicine specialty, I had the opportunity of care and diagnosis a lot of people with rare diseases, because the hospital was at that time a national center for several pathologies. Some years later, I had to face on a severe epidemic of rare disease cases due to an external toxin, the Toxic Oil Syndrome. It is an autoimmune disease which shows during its natural history features, simulating several other rare diseases such as primary pulmonary hypertension, scleroderma, polyneuropathies, hypereosinophilia syndrome, etc.
In 1999 I was involved in the first European Action Plan of Rare Diseases, then in the Rare Diseases Task Force, EC and at that time, I was already into this interesting field. I have been working in several projects and actions at both European and National levels.
What are the differences between registries for rare diseases and registries for common diseases?
From the methods to be used, there are no major differences between these two types of diseases registries. However, rare diseases registries have some extra difficulties because of the rarity and the lack of expertise of our physicians. At the same time, rare diseases have not been well recognised in the international classifications of diseases (WHO-ICDs family) and this is very problematic for epidemiologists because we cannot capture all the information about these cases. Therefore, we have to define new system codes and classifications, specificly for rare diseases and promote their use by both health authorities and physicians.
From your own country’s experience, what are the biggest advantages of rare diseases registries?
We are conducting a major strategy regarding rare diseases registries in Spain. This has been possible thanks to the International Rare Diseases Research Consortium (IRDiRC), which is providing funds for this strategy. Our project is called “Spanish Rare Diseases Registries Research Network” (SpainRDR) (www.spainrdr.isciii.es). This network comprises two different methods: i) the use of population-based registries, which are addressed by our Spanish Autonomous Regions, but with a great consensus and a central repository and, ii) the patient registries, where medical societies and research networks are responsible for data collection, data entry and also research about their specific rare diseases registries.
We have learned about this strategy several things such as the SpainRDR registry can provide high quality information for making decisions by our health policy makers. They can use this information for health planning, particularly for reference centres designation, information dissemination, providing resources and orphan drugs policy developments.
On the other side, patient registries have provided a wonderful open window for physicians, involved in rare diseases but not so well connected with other types of researchers. At the same time, several rare diseases have currently new physicians involved not only in the patients’ care but in their registries and research.
What lessons could you recommend for a country like Bulgaria regarding rare diseases registries?
It is very important to adopt an overall health policy regarding rare diseases registries because the major difficulty of the registries is that it is neither easy nor viable for one rare disease registry to survive for a long time. Sustainability is the major challenging task and health policies should develop some strategy to face it on.
What’s your message to “Rare Diseases & Orphan Drugs” readers?
It is not so easy to summarise all in one single message what I could say about these two linked topics. However, I could suggest the following issues:
o To be aware about problems arisen and limits (scarce of validity) of some types of the decisions, which apparently are showing as good promises with premature results. In medical science the knowledge is continuously increasing, but not all apparently progresses are valid for the patients;
o To concentrate all efforts in sustainable activities throughout a previous deeply analysis on risks and real benefits for the populations, and taken into consideration ethic rules. These efforts should be developed in a joint action between patient alliances and researchers;
o To promote rare diseases registries trying to involve all sectors and looking at the future while the sustainability of today and tomorrow is guaranteed.