Precision medicine leverages genomics, metabolomics, and biomedical data sciences to develop targeted treatments based on individual genetic, environmental, and lifestyle factors. While standardized treatments work for some conditions, many require a personalized approach to improve therapeutic outcomes. The integration of artificial intelligence (AI) and big data analytics enhances precision medicine by enabling predictive models and individualized treatment plans. A key application of precision medicine is in rare disease diagnosis and treatment, where AI-driven methodologies improve diagnostic accuracy and therapeutic development. Multidisciplinary collaboration among researchers, healthcare professionals, and patient advocacy groups is essential to advancing care and ensuring equitable access to innovative treatments. Despite these advancements, ethical concerns regarding AI in precision medicine remain a challenge. Addressing these issues requires transdisciplinary research involving medical practitioners, ethicists, and data scientists to develop robust validation frameworks and certification methodologies. This paper explores the ethical implications of AI in precision medicine and rare disease treatment, emphasizing the need for responsible algorithm governance. The findings aim to provide a foundation for future research on integrating ethical considerations into AI-driven healthcare, ensuring safe, transparent, and equitable medical innovations.

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Precision Medicine Bioethics and AI Ethics: The Case of Rare Diseases

  • Elsa Papadopoulou,
  • Styliani Adam,
  • Themis Exarchos

摘要

Precision medicine leverages genomics, metabolomics, and biomedical data sciences to develop targeted treatments based on individual genetic, environmental, and lifestyle factors. While standardized treatments work for some conditions, many require a personalized approach to improve therapeutic outcomes. The integration of artificial intelligence (AI) and big data analytics enhances precision medicine by enabling predictive models and individualized treatment plans. A key application of precision medicine is in rare disease diagnosis and treatment, where AI-driven methodologies improve diagnostic accuracy and therapeutic development. Multidisciplinary collaboration among researchers, healthcare professionals, and patient advocacy groups is essential to advancing care and ensuring equitable access to innovative treatments. Despite these advancements, ethical concerns regarding AI in precision medicine remain a challenge. Addressing these issues requires transdisciplinary research involving medical practitioners, ethicists, and data scientists to develop robust validation frameworks and certification methodologies. This paper explores the ethical implications of AI in precision medicine and rare disease treatment, emphasizing the need for responsible algorithm governance. The findings aim to provide a foundation for future research on integrating ethical considerations into AI-driven healthcare, ensuring safe, transparent, and equitable medical innovations.