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Improving the treatment of rare diseases depends significantly on their early detection, which is possible thanks to the use of modern genetic diagnostics – emphasized the participants of the Healthcare Policy Summit dedicated to rare diseases. The specialists’ recommendations will be presented to the Ministry of Health in March 2023.

On February 1, medical and system experts, as well as representatives of public institutions and patient organizations, discussed recommendations for the Minister of Health regarding the improvement of treatment for rare and ultra-rare diseases in Poland. The discussion took place as part of the fourth edition of the Healthcare Policy Summit – a series of expert meetings dedicated to the most urgent priorities in healthcare, organized by the Institute for the Development of Social Affairs.

As emphasized during the discussion, effective therapies for people suffering from rare diseases are often not currently available; however, genetic testing makes it possible to understand the molecular basis of the disease, sparing the patient a long and complicated “diagnostic odyssey.” An accurate diagnosis also enables the rapid implementation of available treatments, including personalized therapies, and gives the patient a chance to participate in clinical trials aimed at developing new therapies.

“Properly timed, well-matched genetic diagnostics for rare diseases reduce the cost of diagnosing a patient by 80 percent. That is why we care about ensuring that genetic diagnostics in rare diseases are well utilized and that the quality of genetic testing is as high as possible,” emphasized Prof. Anna Latos-Bieleńska, national consultant in clinical genetics and chair of the Council for Rare Diseases at the Ministry of Health.

Rare diseases are severe and chronic conditions with a prevalence of fewer than 5 patients per 10,000 inhabitants. They occur in 6 to 8 percent of the entire population, which translates to 2–3 million people in Poland. In the case of some ultra-rare diseases, there may be only a few patients nationwide.

On August 24, 2021, the Council of Ministers adopted the “Plan for Rare Diseases” – a comprehensive model of patient care containing over 30 tasks scheduled for implementation between 2021 and 2023. The goal of the plan was to shorten the diagnostic path – the so-called diagnostic odyssey – which lasted several years and resulted in the disease being diagnosed at a very advanced stage, making treatment, delayed by several years, less effective or completely ineffective.

The plan included the establishment of expert centers for individual rare diseases, improvement of diagnostics through increased availability of genetic testing, access to reimbursed drugs and innovative therapeutic technologies, creation of a rare disease registry, implementation of a rare disease patient passport, and the launch of the “Rare Diseases” information platform. The assumptions of this plan are being gradually implemented.

Genetic diagnostics of rare diseases include prenatal testing, testing performed on living individuals (children aged 0–18 and adults), as well as on deceased individuals.

As pointed out by Prof. Anna Latos-Bieleńska, genetic diagnostics in rare diseases and oncology, utilizing high-throughput genomic methods, is the foundation of personalized therapy and has enormous and continuously growing potential. To fully harness this potential, it is essential to create a network of laboratories equipped with specialized equipment and apparatus, and to ensure a specialized workforce of laboratory geneticists and bioinformaticians. This will be supported by the new specialization “medical molecular genetics” as well as by utilizing the qualifications of graduates in biotechnology, biomedicine, genetics, and molecular biology.

“The clinician must be able to use the result of genetic testing to provide appropriate medical care for the patient, and in the case of genetic rare diseases and hereditary cancers, also for the patient’s relatives,” emphasized Prof. Latos-Bieleńska.

The expert added that genetic testing must be of the highest quality, which is why it requires the development of standards by appropriate scientific societies and teams of national consultants. Supervision over genetic laboratories should also be introduced.

“Genomic data should be protected but collected centrally, as this will enable a rapid increase in information about the genome (complete genetic information) of a given population, facilitate the interpretation of genomic test results, and the identification of founder mutations,” explained Prof. Latos-Bieleńska.

In the opinion of Dr. Tomasz Latos, Chairman of the Parliamentary Health Committee, a law on genetic testing is necessary for the central collection of genomic data, comprehensively regulating the principles of providing genetic counseling, biobanking of material, and the security of genetic data.

Dr. Radosław Sierpiński, President of the Medical Research Agency (ABM), pointed out that in the fields of both genetics and oncology, international cooperation is important.

“Polish patients have the opportunity to benefit from innovative therapies, including at the oncology center in Houston (USA). We want highly specialized treatment options to be offered within the Visegrád Group, and even the Three Seas region. That is why we will discuss how to create networks for rare diseases,” he emphasized.

According to the President of the Medical Research Agency, the future of rare disease treatment also lies in digital medicine, and public-private partnership is crucial in developing innovative medical technologies.

“In March, we will announce a competition for digital diagnostics centers. Biobanks will be established alongside them. Universities and research institutes will receive PLN 300 million to develop personalized medicine and ensure the highest quality of research. We will also create a Clinical Research course so that institutes can benefit from the best international solutions,” emphasized Radosław Sierpiński.

In the opinion of medical specialists, genetic diagnostics are the foundation for initiating treatment, which is why the tests should cover the widest possible groups of people and be conducted as early as possible.

“Screening is only the beginning. What is needed is comprehensive treatment – multidisciplinary along with underappreciated rehabilitation,” emphasized Prof. Mieczysław Walczak, national consultant in pediatric endocrinology and diabetology, member of the Council for Rare Diseases at the Ministry of Health, and chairman of the team of coordinators for rare diseases.

As he pointed out, treatment—mostly genetic in nature—should begin as early as possible, because only then does it produce results. Meanwhile, there are conditions such as Turner syndrome, where the youngest patients are 3 months old, but treatment begins at the age of five.

He added that the program for rare diseases is currently limited only to the medical sphere. It does not address issues related to education or social assistance. There is also nothing about preparation for professional work or for normal life.

“The patient is treated – but what next? We may end up producing disabled individuals who will place an even greater burden on their families, society, and the system, because they will live longer – and disability pensions will have to be paid to them longer. Meanwhile, with proper education, some of these individuals will not only be independent, but also professionally active and able to earn a living – perhaps even support others. In other words, we have said A, but we haven’t said B,” the expert emphasized.

Małgorzata Bogusz, President of the Institute for the Development of Social Affairs and member of the European Economic and Social Committee, explained that the European Commission is currently working on an amendment to the regulation on rare diseases, which is scheduled to be adopted in November 2023.

“The regulation will concern pharmaceutical and pediatric legislation. At the beginning of January 2023, issues arose that require further work and consultation. We will know the legislation on rare diseases as early as the beginning of May. I hope to pass on the recommendations from this meeting to Brussels,” said Małgorzata Bogusz.

Source: PAP

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