Affiliations 

  • 1 Surgery, Jaber Al Ahmad Al Jaber Al Sabah Hospital, Kuwait City, KWT
  • 2 Medicine, University of Aleppo, Aleppo, SYR
  • 3 Medicine and Surgery, Mutah University, Karak, JOR
  • 4 Internal Medicine, Mayo Hospital, Lahore, PAK
  • 5 Internal Medicine, Liaquat University of Medical and Health Sciences, Hyderabad, PAK
  • 6 Internal Medicine, Saint Joseph Regional Center, Mishwaka, USA
  • 7 Pediatrics, University of Kentucky College of Medicine, Lexington, USA
  • 8 Internal Medicine, Jinnah Sindh Medical University, Karachi, PAK
  • 9 General Medicine, Mahawai Basic Hospital/The Oda Foundation, Kalikot, NPL
  • 10 Trauma and Orthopaedics, Royal Shrewsbury Hospital, Shrewsbury and Telford Hospital NHS Trust, Shrewsbury, GBR
  • 11 Internal Medicine, Caribbean Medical School, St. Georges, GRD
  • 12 Surgery, Wyckoff Heights Hospital, Brooklyn, USA
Cureus, 2023 Oct;15(10):e46860.
PMID: 37954711 DOI: 10.7759/cureus.46860

Abstract

Rare genetic disorders (RDs), characterized by their low prevalence and diagnostic complexities, present significant challenges to healthcare systems. This article explores the transformative impact of artificial intelligence (AI) and machine learning (ML) in addressing these challenges. It emphasizes the need for accurate and early diagnosis of RDs, often hindered by genetic and clinical heterogeneity. This article discusses how AI and ML are reshaping healthcare, providing examples of their effectiveness in disease diagnosis, prognosis, image analysis, and drug repurposing. It highlights AI's ability to efficiently analyze extensive datasets and expedite diagnosis, showcasing case studies like Face2Gene. Furthermore, the article explores how AI tailors treatment plans for RDs, leveraging ML and deep learning (DL) to create personalized therapeutic regimens. It emphasizes AI's role in drug discovery, including the identification of potential candidates for rare disease treatments. Challenges and limitations related to AI in healthcare, including ethical, legal, technical, and human aspects, are addressed. This article underscores the importance of data ethics, privacy, and algorithmic fairness, as well as the need for standardized evaluation techniques and transparency in AI research. It highlights second-generation AI systems that prioritize patient-centric care, efficient patient recruitment for clinical trials, and the significance of high-quality data. The integration of AI with telemedicine, the growth of health databases, and the potential for personalized therapeutic recommendations are identified as promising directions for the field. In summary, this article provides a comprehensive exploration of how AI and ML are revolutionizing the diagnosis and treatment of RDs, addressing challenges while considering ethical implications in this rapidly evolving healthcare landscape.

* Title and MeSH Headings from MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine.