The Rare Diseases Plan is a comprehensive solution aimed at transforming the approach to the diagnosis and treatment of orphan diseases in Poland. Implementing the plan involves systemic, economic, and IT challenges. While most tasks are currently in progress, the Ministry of Health assures that key aspects are being prioritized. These include establishing a network of expert centers, facilitating access to diagnostics, improving service valuation, and ensuring better access to therapies.
“We are implementing the assumptions of the Rare Diseases Plan. One of our main tasks is the establishment of new expert centers where patients can receive professional assistance. Currently, Poland has 44 expert centers, but this number is far from sufficient given the large number of rare diseases. The total patient group affected ranges between 2 and even 3 million people. Therefore, 44 centers are absolutely inadequate, and we are currently developing criteria for the inclusion of new centers. We encourage institutions with adequate staffing, equipment, diagnostic access, expertise, and experience in patient care to apply and establish new centers,” stated Deputy Minister of Health Urszula Demkow in an interview with Newseria.
These expert centers for rare diseases, known as OECRs, must not only be expanded but also specialized in specific disease units. However, simply broadening the network is not enough. Diagnosing and treating rare diseases is often costly, necessitating a redefinition of the basket of guaranteed healthcare services to ensure valuations reflect the actual financial commitment required for patient care.
“The valuation of services for patients with rare diseases has been significantly improved. Additional genetic tests and other biochemical, laboratory, and imaging tests have been included in the service basket and will be reimbursed separately by the National Health Fund (NFZ). This will also shorten the patient’s diagnostic path and prevent them from having to cover these expensive tests out of pocket. For example, a single genetic test can cost over 5,000 PLN, which is a huge financial burden for patients,” noted Urszula Demkow.
Shortening the diagnostic pathway is crucial, given that diagnosing a rare disease currently takes between five to eight years. During this period, patients often undergo numerous unnecessary tests and ineffective treatments. One of the fundamental problems causing diagnostic delays is the low level of diagnostic awareness. Doctors consulting patients rarely consider rare diseases due to limited knowledge. Improving awareness and expertise in rare and ultra-rare diseases will be supported through IT tools, including a patient registry, an online platform, and an electronic patient card.
“We will include patients in the registry so we can track how many there are, understand the natural history of their diseases, monitor treatment responses, and evaluate which therapies work and which do not, thus gaining greater experience. Knowing the number of patients will also help us estimate the costs of potential new therapies. Additionally, we are launching and expanding an informational platform for rare disease patients, where patients, their families, and interested parties can access information about specific diseases, their clinical course, prognosis, and available treatment options. A key outcome of this registry will be the issuance of a digital patient card for rare diseases. This card will serve as a digital document containing essential information about the patient’s condition,” explained the Deputy Minister of Health.
It is estimated that only about 5% of rare diseases have dedicated treatments. One of the major challenges is ensuring that newly registered therapies become available to Polish patients as quickly as possible under reimbursement programs, mainly through drug programs.
“We are committed to introducing new therapies. The Ministry of Health is working intensively to ensure that Polish patients gain access to the latest global treatments as soon as possible. Of course, there are sometimes obstacles, such as challenges with pharmaceutical companies, but we are generally very open to implementing new therapies. We are also introducing additional newborn screening tests to identify certain diseases at birth before symptoms appear. This will allow for early treatment and, in some cases, prevent the disease entirely, enabling affected children to live normal lives. We are expanding newborn screening by adding six additional parameters,” said Urszula Demkow.
The Deputy Minister of Health added that approximately 100 million PLN has been allocated for the implementation of the National Rare Diseases Plan.
