Equity in care for patients with rare diseases: challenges and lessons for public health systems

Rare diseases, the experts stressed, have only relatively recently been seen and analyzed in the context of public health - although they undoubtedly pose a challenge, given that in Poland, according to very conservative estimates, some 3.5 million people suffer from them. - In fact, the number affected by rare diseases must be multiplied by at least two, perhaps even three. This is because they also affect the people closest to the patients, who often accompany them in their lifelong struggle with the disease," reminded Prof. Anna Kostera-Pruszczyk, chairwoman of the Council for Rare Diseases, head of the Department of Neurology at WUM.

As one of the main achievements of recent years, the expert pointed to advances in diagnostics that make it possible to shorten the diagnostic odyssey. As a result, the patient receives a diagnosis faster, but also the system saves powerful resources (no duplication of visits, tests, refraining from treating misdiagnosed diseases). This also translates into shorter queues for tests and specialists. In some cases, an accurate diagnosis can also result in greater protection for family members (genetic testing).

- No one expects red carpets to be rolled out in front of patients with rare diseases. We are concerned with eliminating stairs," Prof. Kostera-Pruszczyk stressed. There is no doubt that an example of a disease in which a huge part of the "stairs" has already been eliminated is SMA. Poland boasts one of the best treatment programs for the disease and thanks to screening, newly diagnosed patients receive optimal treatment before symptoms of the disease appear.

The idea, however, as was said during the discussion, is that similar opportunities should also be given to patients with other rare diseases - as long as therapy or prevention is possible. As Prof. Karina Jahnz-Różyk, national consultant in allergology and head of the Department of Internal Medicine, Pneumonology, Allergology, Clinical Immunology and Rare Diseases at the Military Medical Institute - National Research Institute reminded, the B.122 drug program for treatment of angioedema was established in 2021, which included preventive treatment for the first time in Poland. Patients with at least twelve attacks treated with ad hoc treatment over a six-month period that occurred in the larynx, pharynx or abdomen are included in the program.

- Currently, 56 patients are included in the program. Lanadelumab has unquestionable efficacy and a high safety profile, and patients treated in the drug program are essentially symptom-free, the expert stressed, while pointing out that about 10% of patients with angioedema can benefit from such - the most optimal, as it does not allow symptoms to appear. And while it is difficult to think of covering everyone, the inclusion criteria for the program, according to the national consultant, should be relaxed. In her opinion, patients (about 160 people) with at least two severe attacks per six months requiring emergency treatment should also be able to benefit from the treatment, because in some locations the edema is directly life-threatening.

All indications are that the expected change will take place as early as January. - Just in the case of angioedema, the scientific evidence from direct clinical practice is very strong," stressed Mateusz Oczkowski, deputy director of the Drug Policy and Pharmacy Department of the Ministry of Health. The Ministry representative said that the application submitted by the responsible entity had been reviewed and given an opinion by AOTMiT, also the Economic Commission had no objections and recommended the therapy for reimbursement. - It is not true that the Economic Commission is a cerberus, standing in the way of reimbursement," Oczkowski joked.

At the same time, the deputy head of the drug department recalled that over the past few years, 90 percent of reimbursement requests submitted by responsible parties were granted. - In the case of the remaining ten percent, the main obstacle was the lack of a price agreement, but usually the companies renewed their requests and eventually succeeded in reaching a compromise.

In his opinion, the main problem of the sizable delays in the introduction of new therapies for reimbursement at the moment is the policy of the responsible parties, who do not prioritize the Polish market - and do not start with Poland when applying for public funding for medicines. The reason is simple: priority is given to countries where drug prices are higher. - The average time for processing an application at the moment is 240 days. That's only 60 days longer than the EC's transparency directive. The approximately three-year delay compared to other European countries, which international reports accentuate, is due to the timing of the applications themselves, he said.

- The cost of treating rare diseases, the cost of orphan drugs, is a challenge for all health system managers, stressed Prof. Marcin Czech, president of the Polish Pharmacoeconomic Society. - A pharmacoeconomist colleague from Belgium once said that an orphan drug should not be a drug behind the glass. This shows that such rich countries are also unfamiliar with the dilemmas of financing the treatment of rare diseases, he said, recalling that the Benelux countries jointly negotiate the price of therapies with pharmaceutical companies.

One of the methods used in the decision-making process is the multi-criteria analysis adopted in many countries - such as the Czech Republic but also wealthy Saudi Arabia. On the other hand, it is difficult to expect, the expert stressed, that the Ministry of Health will reject all cost-effectiveness thresholds and criteria and finance "everything to everyone." No country, even a very rich one, can afford such a solution.