National Plan for Rare Diseases (NPCR) for 2021-2023

by Anastazja Niedzielska-Pitera

21 April 2021

In March 2021, the Ministry of Health published a draft plan for rare diseases for the next 3 years. The main objective of the plan is to improve the diagnosis and treatment of conditions affecting maximally 6-8% of the population, i.e. the so-called rare diseases. According to the Ministry of Health, this problem may affect 2-3 million Poles of different ages.

Characteristics of rare diseases

It is estimated that there are about 8,000 rare diseases, of which 6,000 have an ORPHA identifier - ORPHA is the nomenclature of rare diseases (https://www.orpha.net/consor/cgi-bin/index.php). 80% of rare diseases are genetic, 20% may be due to past infections or environmental factors. Because of their low prevalence and high dispersion in the population, rare diseases are difficult to diagnose as a specific type of disease. For this reason, it is necessary to implement new technologies as part of their treatment.

The objectives of the NPCR

The plan includes actions with 40 specific measures in 6 areas. Among them, the following should be mentioned: establishment of Expert Centres for Rare Diseases and defining rules for their operation, and delivery of highly specialised equipment for genetic diagnostics of specified diseases, including large-scale genomic tests, which will be provided as guaranteed health insurance benefits.

The NPCR aims to improve access to medicines and foodstuffs for patients with special nutritional needs. The Ministry plans to create a system register for monitoring rare diseases and health problems and a rare disease patient passport. In addition, an information platform is to be created as a source of reliable knowledge on the topic.

The costs of implementing the plan are estimated at 90 million zloty, and the amount of funding for state-sponsored prescription drugs is to total 750 million zloty. The National Health Fund plans to allocate between 30 and 50 million zloty for genetic diagnostic tests in this area. In addition, the Medical Research Agency intends to spend around 100 million zloty on research into rare diseases.

Summary

Despite EU recommendations to develop therapeutic strategies in the Member States, Poland has not yet introduced any support mechanisms for this group of patients. The current plan is the result of many years of work of the team for rare diseases appointed by the Minister of Health. The NPCR project is currently at the stage of public pre-consultation.