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Rare diseases are often chronic, highly complex, progressive and severely disabling, frequently affecting life expectancy and generating specific care needs. While rare diseases share the impacts and challenges of common severe conditions, because each affecting very small numbers scattered across the globe, there is a lack of knowledge, expertise and diagnostic capacity and treatments availability. Rare Diseases are often misdiagnosed or undiagnosed with an average delay of up to 6 years to have a diagnosis. The lack of patient pathways and specific referral systems makes that many patients are not having access to the appropriate specialists. Rare diseases are at the forefront of digital health and exemplify high added value of regional and global approaches. New digital tools are already being used to address the challenges of people living with a rare disease to connect highly isolated patients, enable access and speed up diagnosis, refer to specialized medical expertise, to gather and share expertise on highly complex care, and accelerate clinical research.
The event, co-sponsored by the European Union, Romania, Kuwait, Argentina, Colombia, Cyprus, France, Georgia, Hungary, Malta, and Sweden, used rare diseases as an illustration to show the potential of digital health to achieve Universal Health Coverage (UHC). The number of co-organizers underlines the worldwide recognition of the relevance of this topic.
Ambassador Walter Stevens, Head of the European Union (EU) Delegation in Geneva, opened the event by recalling the number of persons suffering from a rare disease, including in Europe. He also reminded of the common values and principles that guide EU health systems, agreed by the European Council as “universality, access to good quality care, equity, and solidarity.”
In her opening remarks, Dr. Soumya Swaminathan, Chief Scientist of the World Health Organization (WHO) pointed to the positive use of new digital tools addressing the challenges of persons living with rare diseases. As an illustration, digital tools can connect highly isolated patients, speed up diagnosis and clinical research, refer to specialized medical expertise, or gather and share expertise on highly complex care.
High-level speakers, including Dr. Cristian, Secretary of State of the Ministry of Health of Romania, and Prof. Dr. Ildikó Horváth, Minister of State for Health of Hungary, delivered keynote speeches, addressing the state of persons suffering from rare diseases and digital commitments of their respective countries.
Other panellists included Dr. Chieko Ikeda, Senior Assistant Minister for Global Health of Japan, and Mr. Yann Le Cam, Founder and Chief Executive Officer of EURORDIS. Deputy Director-General of the European Commission's Directorate-General for Health and Food Safety (DG SANTE), Mr. Martin Seychell, provided the example of European Reference Networks (ERNs). In March 2017, 24 ERNs were launched and are already delivering faster diagnosis and better treatments of patients with rare diseases. Illustrating concrete progresses that have been made within the European Union, Mr. Seychell mentioned that “The EU has brought knowledge and expertise together via the European Reference Networks (ERNs), an innovative example of structured and voluntary collaboration in the field of healthcare among all EU Member States and Norway.”
Virtual networks of clinicians will soon be in a position to adopt common standards with regards to data collection and interoperability. These networks are already relying on existing IT tools and platforms to deliver their mission. In the coming months and years, the ERNs will endeavour to develop a host of new services including virtual clinical consultations for rare disease patients across the EU; the identification of new emerging best practices and innovation in diagnosis and care; training and education of supra-specialization and highly specialized surgery and intervention as well as the collection of shared common datasets and the creation of disease patient registries, that will drive forward the pace of research and development of treatments that offer the opportunities to care, and to cure which many patients and their families never hoped was ever possible.
Mr. Seychell underlined the multiple potential uses of digital tools and declared that “at EU level, we are working to promote a digital transformation that is inclusive, interoperable and that places the patient at its centre.”
He concluded his remarks by recalling that even though digital tools may enable crucial advances, “the digital transformation of health and care will only be a successful one if it remains a patient and citizen-centric one, and succeeds in reaching out to them in meaningful ways.”