POLICY AND PRACTICE REVIEWS article
Front. Digit. Health
Sec. Human Factors and Digital Health
Volume 7 - 2025 | doi: 10.3389/fdgth.2025.1539841
This article is part of the Research TopicMind the Gap: Addressing global healthcare challenges through equitable Healthcare technologiesView all articles
Rare diseases: Ethical challenges in the era of digital health
Provisionally accepted
Liesbeth Siderius1,2*
Sahan Damsiri Perera3
Lina Jankauskaite, MD, PhD4,5
Anjan Bhattacharya6,7Paulo Gonçalves8- 1Youth Health Care, Almere, Netherlands
- 2Rare Care World Foundation, Loosdrecht, Netherlands
- 3University of South Australia, Adelaide SA, Australia
- 4Medical Academy, Lithuanian University of Health Sciences, Kaunas, Kaunas, Lithuania
- 5Lithuanian University of Health Sciences, Kaunas, Kaunas, Lithuania
- 6Apollo Multispeciality Hospital, Kolkata, India
- 7University of Technology, Kolkata, India
- 8Rare Disease Patient Organisations, Lisboa, Portugal
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To improve the health and wellbeing outcomes of people with rare conditions, it is necessary to integrate all aspects of health and wellbeing. Digital health technologies can appropriately capture and share harmonised data between care providers and the individuals concerned. The quality of digital health is dependent on defined data points reflecting the actual medical and societal situation and register changes when new diagnostics or therapies become available. The life experiences of individuals living with a condition, individually or as a group, are underrepresented in the digitalising world. This narrative review addresses rare conditions as an entity, public health strategies, digital health opportunities, and ethical considerations. The challenge is illustrated by comparing data gathered by manually selected data points with advanced artificial intelligence systems. In this new digital era, we consider the philosopher Kant's notion of noumena: "Only individuals with rare disabling conditions can genuinely convey the reality of living with those conditions". In conclusion, there is a pressing demand to embed the needs and experiences of people in all new technologies.
Keywords: Rare Diseases, Public Health, person-centred care, Digital Health, Data interoperability, Philosophy, Artificial intelligence in medicine, Shwachman-Diamond syndrome
Received: 04 Dec 2024; Accepted: 23 Jun 2025.
Copyright: © 2025 Siderius, Perera, Jankauskaite, MD, PhD, Bhattacharya and Gonçalves. This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) or licensor are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.
* Correspondence: Liesbeth Siderius, Youth Health Care, Almere, Netherlands
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