Dr Ana Rath
Director of US14 INSERM – Orphanet
Improved access to information can lead to earlier referrals for rare disease patients, thus shortening the diagnosis odyssey.
Those affected by a rare disease know how common it is to travel a long road to diagnosis. High-quality information, that is easily accessible from a single entry point, is key to facilitating earlier referrals and improving management and outcomes.
Availability of information is key
To do this, experts from around the world contribute to the Orphanet database, a freely available resource that aims to improve the knowledge, diagnosis and care of rare diseases.
Information, available in an array of different languages, enables primary healthcare physicians to orientate patients to adapted healthcare providers, and to put them into contact with relevant patient support groups. Furthermore, the database of clinical laboratories and diagnostic tests also helps healthcare providers locate cross-border services when necessary.
Non-specialist physicians cannot know about more than 6,000 rare diseases, nor do they have the time to pick the right information amongst the plethora of available knowledge.
“Non-specialist physicians cannot know about more than 6,000 rare diseases, nor do they have the time to pick the right information amongst the plethora of available knowledge,” says Dr. Ana Rath, Director of US14 INSERM – Orphanet. Orphanet is the international rare disease and orphan drug database, providing users free access to information on rare diseases and associated designated centres of expertise for rare diseases in 36 countries around the world.
The use of a standardised nomenclature of rare diseases, known as ORPHAcodes, is an essential tool for ensuring that patient data is appropriately coded in health information systems, and thus reusable for research and public health planning purposes.
Rare diseases and responding to COVID-19
The current coronavirus pandemic has brought a slew of additional challenges to those living with rare diseases. Knowledge concerning the effect of COVID-19 in rare disease is constantly evolving. Rare disease expert groups and learned societies continue to issue recommendations and guidance on everyday life in the pandemic and treatment of rare disease patients. The sharing and availability of this information is absolutely crucial, at a time when so much is changing so fast.
Since 1997, Orphanet, based at the French Institute of Health and Medical Research, has been providing expert-reviewed information on rare diseases and associated services with the aim of improving the knowledge, diagnosis and care of rare diseases.
Since March 2020, Orphanet has been working to create and update a list of relevant resources and services concerning COVID-19 and rare diseases, accessible from its homepage, based on a regular survey of relevant literature. It is hoped that Orphanet can bring additional visibility to this invaluable information during the crisis.
