A scientific roundtable discussion addressed the individual and societal burdens of rare diseases, the challenges of financing innovative therapies, and the future of digital medicine.
The term “rare disease” is misleading – as emphasized at a scientific event held at the headquarters of the HEA (Hungarian Economic Association), organized under the leadership of Prof. Dr. Márta Péntek (professor at Óbuda University and president of the Health and Health Economics Section of the HEA).
Although, according to the European Union’s definition, a disease is considered rare if it affects no more than one person in two thousand, collectively they form a vast patient population: approximately 700,000 people in Hungary live with some form of rare disease, and nearly 30 million in the EU – three times the population of Hungary.
Diagnosis Takes Years
Dr. Gábor Pogány PhD, president of the Hungarian Federation of People with Rare and Congenital Diseases (RIROSZ), pointed out that one of the most pressing problems for patients is the lack of information. Since each disease affects very few individuals, patients often cannot find an appropriate doctor, medication, or even peers facing the same condition. According to the European average, diagnostic delay is five years – meaning patients live without a diagnosis for that long while their symptoms are treated separately by different specialists without being recognized as part of a single condition. Approximately 70% of rare disease patients also live with some form of disability, making them one of the largest groups of people with disabilities.
Around 80% of rare diseases are genetic in origin, yet only 6% have a truly curative therapy. In the remaining 94% of cases, healthcare alone cannot provide a solution – maintaining patients’ and families’ quality of life requires coordinated support from social, educational, and employment systems.
Billions in Costs, Hidden Burdens
Prof. Dr. László Gulácsi DSc, Vice-Rector for Research at Óbuda University, and Dr. Áron Hölgyesi, senior research fellow at the institution, presented health economics perspectives. Measuring disease burden includes not only direct healthcare expenditures – such as hospital stays, medications, and medical devices – but also the immense burden of informal care (assistance, nursing, and support provided by family members). Relatives of rare disease patients often give up their jobs, their own health may deteriorate due to caregiving, and in the most severe cases, families may even break apart.
A study supported by the European Union’s Horizon 2020 program, conducted across seven European countries, assessed the quality-of-life impact, costs, and individual and societal burden of epidermolysis bullosa (EB, commonly known as butterfly disease). In Hungary (research led by Prof. Dr. Márta Péntek, Óbuda University), the average annual treatment cost per EB patient is around €10,000, while in Germany it exceeds €50,000. These differences reflect variations in healthcare and social systems, as well as financing and organization. The study included 347 patients and 121 caregivers from seven countries – a significantly larger sample than a similar survey conducted ten years earlier.
One key finding of the research is that the largest cost component was not informal care, but wound dressings and medical devices, consistent with the fact that EB therapy at the time of the survey was primarily symptomatic and palliative. For children, the total disease cost is more than 60% higher than for adults.
Gene Therapies at the Door: Extraordinary Opportunity, Enormous Cost
The pace of scientific progress is unprecedented: intensive drug development is underway for more than 3,000 single-gene rare diseases. Gene therapies for EB have already been approved in both Europe and the United States – including, uniquely, topical treatments applied directly to the skin. While development timelines and regulatory processes for rare disease drugs have shortened, prices have skyrocketed, creating serious ethical and financing dilemmas.
Payers are facing increasing challenges: the number of rare disease patients is not decreasing, and improved diagnostics continue to expand the range of identified conditions. In Hungary, total annual costs in this area are already estimated to exceed 100 billion HUF – and demand is expected to triple in the coming years.
Robotics, Artificial Intelligence, and the Role of Patient Organizations
Digital health technologies, robotics, and artificial intelligence will play an increasingly important role in the future. According to research at Óbuda University, relatives caring for chronic patients would welcome assistance from robots in everyday tasks – provided they are medium-sized, not animal-like in appearance, and primarily perform logistical functions. However, most caregivers do not wish to replace human involvement in personal, intimate care.
Dr. Gábor Pogány emphasized that patient organizations play an irreplaceable role, as they have a comprehensive view of the entire care system and can connect different stakeholders. The Hungarian Federation of People with Rare and Congenital Diseases (RIROSZ) has also taken on the representation of isolated patient groups that are unable to organize themselves within specific disease areas.
Interdisciplinarity: The Only Viable Path
Participants of the roundtable unanimously agreed that the solution lies in genuine collaboration among healthcare, economic, social, and technological stakeholders. The second Hungarian National Plan for Rare Diseases has already incorporated a health economics chapter – raising awareness of this and convincing decision-makers will be key tasks in the coming period.
“Come back in a year, and we’ll show you something” – this statement is no longer just encouragement, but a well-founded promise. Progress in the field of rare diseases is so rapid that within one or two years, an entirely new landscape may emerge.
The event was organized by the Health and Health Economics Section of the Hungarian Economic Association (HEA). Participants of the roundtable included: Prof. Dr. Márta Péntek, Doctor of the Hungarian Academy of Sciences (section president of HEA; Óbuda University), Dr. Gábor Pogány PhD (president of RIROSZ), Prof. Dr. László Gulácsi, Doctor of the Hungarian Academy of Sciences (Óbuda University), and Dr. Áron Hölgyesi PhD, senior research fellow (Óbuda University). The research was supported by the European Union’s Horizon 2020 research and innovation programme under the EJP RD COFUND-EJP Nº 825575 and the National Research, Development and Innovation Fund (2019-2.1.7-ERA-NET-2021-00055; “Changes in the Socio-Economic Burden of Epidermolysis Bullosa in Europe”) at Óbuda University.
This summary was prepared with the assistance of the stt.ai and claude.ai artificial intelligence applications.