Without better integration of services and improved awareness among primary care physicians, many Czech patients with rare diseases will continue to struggle for timely and appropriate treatment, patient organisations emphasise.
Health experts warn that patients with rare diseases in the Czech Republic often face a fragmented healthcare system, with high-quality medical care available only for some diagnoses and inconsistent coordination between specialists.
“We have top-tier care, but only for certain diagnoses,” said Anna Arellanesová, chair of the patient organisation Rare Diseases Czech Republic, during an expert roundtable in the Czech Parliament. She stressed that interdisciplinary cooperation is crucial, as well as the introduction of a care coordinator role, which she described as “an indispensable function because treatment is multidisciplinary.”
Survey reveals awareness gaps
According to data from the recent survey conducted by IPSOS in collaboration with Rare Diseases Czech Republic and Takeda Pharmaceuticals Czech Republic, awareness of rare diseases among doctors in the country is high.
“The survey states that nearly three-quarters of surveyed doctors have patients with diagnosed rare diseases in their practice. This highlights the importance of involving primary care doctors in the entire patient care system,” René Břečťan, Vice Chair of the Rare Diseases Czech Republic, explained.
However, he pointed out that although 62% of primary care physicians are aware of highly specialised care centres, only 38% know where to find the list of European Reference Network (ERN) centres. ERNs are networks of healthcare providers across Europe that specialise in diagnosing and treating rare or complex diseases, ensuring patients have access to the best possible expertise and medical advancements.
This lack of awareness about ERNs, Břečťan noted, affects referrals and collaboration across the system. Many doctors expressed the need for clearer guidelines on diagnostic procedures, as well as information on specialised centres and experts to whom they can refer patients.
National strategy in the making
Czechia is currently implementing the EU-funded “SYPOVO” project, which aims to establish a standardised framework for comprehensive care of rare disease patients. The project should ensure coordination between medical and social services, making healthcare more predictable and tailored to individual patient needs.
“Care should be centralised, as the rarity of these diseases requires,” explained Pavla Doležalová, head of the Centre for Paediatric Rheumatology and Autoinflammatory Diseases at General University Hospital in Prague. Similarly, as the patient organisations have underlined, she also emphasised the need to have “care coordinators” who could help reduce workload in specialised centres.
As part of SYPOVO, the Czech government is preparing the National Strategy for Rare Diseases 2026-2035.
According to the health ministry, the plan will be based on four main pillars: patient-centred care, effective and high-quality healthcare, professional education and training, and improved coordination across the healthcare system.
Reimbursement
One of the critical aspects of rare disease care is access to medication. Since January 2022, Czech law has allowed patients and patient organisations to participate in the decision-making process for drug reimbursement.
Approximately 15 applications are submitted each year for rare disease treatment coverage, with most receiving approval. In 2022, 14 out of 16 applications were approved. Six out of 14 received a positive decision the following year, with three still under review. For 2024, all 15 applications are currently being processed.
[Edited by Vasiliki Angouridi, Brian Maguire]