As many as 50 per cent of rare diseases are undiagnosed, but international collaboration using digital technology could reduce that figure in the future.
Specialist treatment is becoming more accessible for patients with rare diseases and the clinicians who treat them, thanks to digital technology which enables expertise to be shared easily across borders.
Some parents give up work, so they can travel with children to access specialists.
“Technology can help the rare disease community in many ways, mainly by allowing medical expertise to come to the patients, rather than patients having to travel to access expertise,” says Dr Ana Rath, Director of the Orphanet Consortium, an international group linking 41 countries, with the aim of contributing to a rare disease knowledge base to improve the diagnosis, care and treatment of patients with rare diseases.
Digital technology means that doctors who have never before seen a case of a rare disease can quickly contact clinicians with expertise in the disease.
Less travel for families to find treatment
“A rare disease diagnosis is a bombshell for families and can often disorganise their lives. Sometimes parents must give up work so that they can travel with children to access specialists,” says Rath. “But the advent of telemedicine means consultations can take place on screen, at a local medical centre, which is a benefit for both families and doctors.”
Technology also makes it easier to share data, which will help with rare disease diagnosis.
Rath says: “Geneticists now say that as many as 50 per cent of rare disease cases are undiagnosed. To define, name and diagnose rare diseases, we need large amounts of data, and technology enables us to collect, access, and share it.”
International developments help EU patients
Hospitals that house centres of expertise in various specialities are now beginning to come together to form European Reference Networks (ERNs) – virtual networks involving healthcare providers across Europe. They aim to facilitate discussion on complex or rare diseases and conditions that require highly specialised treatment and concentrated knowledge and resources.
“These networks of expertise, which will cover various types of rare diseases, will enable patients in the EU to access experts based in other EU member countries,” says Rath. The first ERNs were launched in March 2017, involving more than 900 highly-specialised healthcare units from over 300 hospitals in 26 EU countries.
Twenty four ERNs are working on a range of thematic issues including, amongst others, bone disorders, immunodeficiencies, childhood cancer, inherited and congenital malformations and rare intellectual disabilities.
Cross-border consultations have now started
This infrastructure enables the review of a patient’s diagnosis and treatment by ‘virtual’ advisory panels of medical specialists across different disciplines, using a dedicated IT platform and telemedicine tools. It will mean that patients can take advantage of international expertise without having to travel to access it.
“The platform for sharing data and enabling tele-consultations was launched late last year and so far about 50 patients have had consultations,” says Rath.
A second call for more hospitals willing to join the existing ERNs went out this year, so they are expected to grow. Similar networks, mainly based around rare diseases research, also exist in the USA, and there is potential for transatlantic collaboration.
Rath says: “Technology is making this an interesting time for research and treatment of rare diseases in Europe, and patients are already starting to benefit.”
