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An EU task force to assess the burden of rare diseases

Nature Medicine volume 29, pages 516–517 (2023)Cite this article

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A rare disease is any type of disease that affects only a small proportion of the population. As of now, there is no consensus on an international definition of rare diseases1. In the European Union, a rare disease is defined as one affecting <5 per 10,000 people, whereas in the United States a disease is considered rare if it affects fewer than 200,000 people nationally. Even though they are individually rare, between 3.5% and 5.9% of the population have a rare disease or diseases, meaning that 263–446 million people worldwide live with a rare disease at any point in time2. Rare diseases have a substantial impact, which is exacerbated by diagnostic delay (due to the limited number of experts and lack of accessibility of genomics analysis) and the lack of available treatments — <5% of known rare diseases have at least one approved pharmacotherapy1,3,4,5.

Insight into the total societal burden of rare diseases, as measured by mortality rates, prevalence, rates of hospital admission and cost of illness, is largely lacking1, while the economic impact of lost contribution to the workforce, by affected individuals and their informal care providers (who are usually family members), is completely untracked. A composite indicator of disease burden is the disability-adjusted life-year (DALY)6. Introduced in the 1990s, the DALY has become a prominent metric of population health. The DALY is used to calculate the healthy time lost due to a disease, injury or risk factor by summing premature mortality, expressed in years of life lost (YLL), and morbidity, expressed in years lived with disability (YLD). The DALYs of rare disease can then be compared to DALYs due to other causes of ill health, a comparison that yields imperative information for priority setting in health care and identifies opportunities for intervention strategies. Furthermore, DALYs allow quantification of patient-level impact, or the overall severity of a disease, which may be an additional criterion in prioritization exercises. However, if DALY estimates for rare diseases are unavailable, rare diseases will not be prioritized.

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Fig. 1: Organizations and initiatives in research on the burden of rare diseases.

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Authors and Affiliations

  1. Institute of Allergology, Charité–Universitätsmedizin Berlin, Berlin, Germany

    Pavel Kolkhir & Marcus Maurer

  2. Allergology and Immunology, Fraunhofer Institute for Translational Medicine and Pharmacology ITMP, Berlin, Germany

    Pavel Kolkhir & Marcus Maurer

  3. Department of Public Health, Babeş-Bolyai University, Cluj-Napoca, Romania

    Diana Alecsandra Grad

  4. Department of Public Health, Erasmus MC University Medical Center, Rotterdam, the Netherlands

    Periklis Charalampous, Claudia Cruz Oliveira & Juanita Haagsma

  5. Department of Healthcare, Faculty of Health, University of Vlora, Vlora, Albania

    Enkeleint A. Mechili

  6. School of Medicine, University of Crete, Heraklion, Greece

    Enkeleint A. Mechili

  7. Department of Cardiovascular, Endocrine-Metabolic Diseases and Aging, Istituto Superiore di Sanità, Rome, Italy

    Brigid Unim

  8. Pediatrics & Rare Diseases Group, Sanford Research, Sioux Falls, SD, USA

    David A. Pearce

  9. Sanford Health, Sioux Falls, SD, USA

    David A. Pearce

  10. Sanford School of Medicine, University of South Dakota, Sioux Falls, SD, USA

    David A. Pearce

  11. Department of Epidemiology and Public Health, Sciensano, Brussels, Belgium

    Brecht Devleesschauwer

  12. Department of Translational Physiology, Infectiology and Public Health, Ghent University, Merelbeke, Belgium

    Brecht Devleesschauwer

Authors
  1. Pavel Kolkhir
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  2. Diana Alecsandra Grad
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  3. Periklis Charalampous
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  4. Claudia Cruz Oliveira
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  5. Enkeleint A. Mechili
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  6. Brigid Unim
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  7. David A. Pearce
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  8. Marcus Maurer
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  9. Brecht Devleesschauwer
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  10. Juanita Haagsma
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Corresponding author

Correspondence to Pavel Kolkhir.

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Competing interests

P.K. was a speaker/consultant for Novartis, Roche and ValenzaBio. M.M. is or recently was a speaker and/or advisor for and/or has received research funding from Astria, Allakos, Alnylam, Amgen, Aralez, ArgenX, AstraZeneca, BioCryst, Blueprint, Celldex, Centogene, CSL Behring, Dyax, FAES, Genentech, GIInnovation, GSK, Innate Pharma, Kalvista, Kyowa Kirin, Leo Pharma, Lilly, Menarini, Moxie, Novartis, Pfizer, Pharming, Pharvaris, Roche, Sanofi/Regeneron, Shire/Takeda, Third Harmonic Bio, UCB and Uriach. All other authors declare no competing interests.

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Kolkhir, P., Grad, D.A., Charalampous, P. et al. An EU task force to assess the burden of rare diseases. Nat Med 29, 516–517 (2023). https://doi.org/10.1038/s41591-023-02207-9

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