Reducing diagnostic delays in acute hepatic porphyria using health records data and machine learning.

Journal: Journal of the American Medical Informatics Association : JAMIA
PMID: 38946554

Abstract

BACKGROUND: Acute hepatic porphyria (AHP) is a group of rare but treatable conditions associated with diagnostic delays of 15 years on average. The advent of electronic health records (EHR) data and machine learning (ML) may improve the timely recognition of rare diseases like AHP. However, prediction models can be difficult to train given the limited case numbers, unstructured EHR data, and selection biases intrinsic to healthcare delivery. We sought to train and characterize models for identifying patients with AHP.

Authors

  • Balu Bhasuran
    DRDO-BU Center for Life Sciences, Bharathiar University Campus, Coimbatore, Tamilnadu, India.
  • Katharina Schmolly
    David Geffen School of Medicine & Pfleger Liver Institute, University of California Los Angeles, Los Angeles, CA 90095, United States.
  • Yuvraaj Kapoor
    Division of Gastroenterology, Department of Medicine, University of California, San Francisco, San Francisco, CA 94143, United States.
  • Nanditha Lakshmi Jayakumar
    Division of Gastroenterology, Department of Medicine, University of California, San Francisco, San Francisco, CA 94143, United States.
  • Raymond Doan
    Alnylam Pharmaceuticals, Cambridge, MA 02142, United States.
  • Jigar Amin
    Alnylam Pharmaceuticals, Cambridge, MA 02142, United States.
  • Stephen Meninger
    Alnylam Pharmaceuticals, Cambridge, Massachusetts, United States of America.
  • Nathan Cheng
    Broad Institute of MIT and Harvard, Cambridge, MA, USA.
  • Robert Deering
    Alnylam Pharmaceuticals, Cambridge, MA 02142, United States.
  • Karl Anderson
    Division of Gastroenterology and Hepatology, University of Texas Medical Branch, School of Medicine, Galveston, TX 77555, United States.
  • Simon W Beaven
    David Geffen School of Medicine & Pfleger Liver Institute, University of California Los Angeles, Los Angeles, CA 90095, United States.
  • Bruce Wang
    Division of Gastroenterology, Department of Medicine, University of California, San Francisco, San Francisco, CA 94143, United States.
  • Vivek A Rudrapatna
    Bakar Computational Health Sciences Institute, San Francisco, California, USA.

Keywords

External Resources

Popular Topics
Recent Journals