{"title":"Navigating the uncommon: challenges in applying evidence-based medicine to rare diseases and the prospects of artificial intelligence solutions.","authors":"Olivia Rennie","doi":"10.1007/s11019-024-10206-x","DOIUrl":null,"url":null,"abstract":"<p><p>The study of rare diseases has long been an area of challenge for medical researchers, with agonizingly slow movement towards improved understanding of pathophysiology and treatments compared with more common illnesses. The push towards evidence-based medicine (EBM), which prioritizes certain types of evidence over others, poses a particular issue when mapped onto rare diseases, which may not be feasibly investigated using the methodologies endorsed by EBM, due to a number of constraints. While other trial designs have been suggested to overcome these limitations (with varying success), perhaps the most recent and enthusiastically adopted is the application of artificial intelligence to rare disease data. This paper critically examines the pitfalls of EBM (and its trial design offshoots) as it pertains to rare diseases, exploring the current landscape of AI as a potential solution to these challenges. This discussion is also taken a step further, providing philosophical commentary on the weaknesses and dangers of AI algorithms applied to rare disease research. While not proposing a singular solution, this article does provide a thoughtful reminder that no 'one-size-fits-all' approach exists in the complex world of rare diseases. We must balance cautious optimism with critical evaluation of new research paradigms and technology, while at the same time not neglecting the ever-important aspect of patient values and preferences, which may be challenging to incorporate into computer-driven models.</p>","PeriodicalId":47449,"journal":{"name":"Medicine Health Care and Philosophy","volume":null,"pages":null},"PeriodicalIF":2.3000,"publicationDate":"2024-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Medicine Health Care and Philosophy","FirstCategoryId":"98","ListUrlMain":"https://doi.org/10.1007/s11019-024-10206-x","RegionNum":2,"RegionCategory":"哲学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"2024/5/9 0:00:00","PubModel":"Epub","JCR":"Q1","JCRName":"ETHICS","Score":null,"Total":0}
引用次数: 0
Abstract
The study of rare diseases has long been an area of challenge for medical researchers, with agonizingly slow movement towards improved understanding of pathophysiology and treatments compared with more common illnesses. The push towards evidence-based medicine (EBM), which prioritizes certain types of evidence over others, poses a particular issue when mapped onto rare diseases, which may not be feasibly investigated using the methodologies endorsed by EBM, due to a number of constraints. While other trial designs have been suggested to overcome these limitations (with varying success), perhaps the most recent and enthusiastically adopted is the application of artificial intelligence to rare disease data. This paper critically examines the pitfalls of EBM (and its trial design offshoots) as it pertains to rare diseases, exploring the current landscape of AI as a potential solution to these challenges. This discussion is also taken a step further, providing philosophical commentary on the weaknesses and dangers of AI algorithms applied to rare disease research. While not proposing a singular solution, this article does provide a thoughtful reminder that no 'one-size-fits-all' approach exists in the complex world of rare diseases. We must balance cautious optimism with critical evaluation of new research paradigms and technology, while at the same time not neglecting the ever-important aspect of patient values and preferences, which may be challenging to incorporate into computer-driven models.
期刊介绍:
Medicine, Health Care and Philosophy: A European Journal is the official journal of the European Society for Philosophy of Medicine and Health Care. It provides a forum for international exchange of research data, theories, reports and opinions in bioethics and philosophy of medicine. The journal promotes interdisciplinary studies, and stimulates philosophical analysis centered on a common object of reflection: health care, the human effort to deal with disease, illness, death as well as health, well-being and life. Particular attention is paid to developing contributions from all European countries, and to making accessible scientific work and reports on the practice of health care ethics, from all nations, cultures and language areas in Europe.