Precision screening for familial hypercholesterolaemia: a machine learning study applied to electronic health encounter data.

Journal: The Lancet. Digital health
PMID:

Abstract

BACKGROUND: Cardiovascular outcomes for people with familial hypercholesterolaemia can be improved with diagnosis and medical management. However, 90% of individuals with familial hypercholesterolaemia remain undiagnosed in the USA. We aimed to accelerate early diagnosis and timely intervention for more than 1ยท3 million undiagnosed individuals with familial hypercholesterolaemia at high risk for early heart attacks and strokes by applying machine learning to large health-care encounter datasets.

Authors

  • Kelly D Myers
    The Familial Hypercholesterolemia Foundation, Pasadena, CA, USA; Atomo, Austin, TX, USA. Electronic address: km@thefhfoundation.org.
  • Joshua W Knowles
    The Familial Hypercholesterolemia Foundation, Pasadena, CA, USA; Division of Cardiovascular Medicine and Cardiovascular Institute, Stanford University, Stanford, CA, USA.
  • David Staszak
    Atomo, Austin, TX, USA.
  • Michael D Shapiro
    Center for Prevention of Cardiovascular Disease, Section on Cardiovascular Medicine, Wake Forest University School of Medicine, Winston-Salem, NC 27101, USA.
  • William Howard
    Atomo, Austin, TX, USA.
  • Mrinal Yadava
    Department of Medicine, Center for Preventive Cardiology, Knight Cardiovascular Institute, Oregon Health & Science University, Portland, OR, USA.
  • David Zuzick
    The Familial Hypercholesterolemia Foundation, Pasadena, CA, USA.
  • Latoya Williamson
    The Familial Hypercholesterolemia Foundation, Pasadena, CA, USA.
  • Nigam H Shah
    Stanford Center for Biomedical Informatics Research, Stanford University, Stanford, CA, USA.
  • Juan M Banda
    Stanford Center for Biomedical Informatics Research, Stanford University, Stanford, CA, USA.
  • Joe Leader
    Geisinger Health System, Danville, PA, USA.
  • William C Cromwell
    Lipoprotein & Metabolic Disorders Institute, Raleigh, NC, USA.
  • Ed Trautman
    Laboratory Corporation of America Holdings, Burlington, NC, USA.
  • Michael F Murray
    Yale Center for Genomic Health, New Haven, CT, USA.
  • Seth J Baum
    Department of Integrated Medical Sciences, Charles E Schmidt College of Medicine, Florida Atlantic University, Boca Raton, FL, USA.
  • Seth Myers
    Atomo, Austin, TX, USA.
  • Samuel S Gidding
    The Familial Hypercholesterolemia Foundation, Pasadena, CA, USA.
  • Katherine Wilemon
    The Familial Hypercholesterolemia Foundation, Pasadena, CA, USA.
  • Daniel J Rader
    The Familial Hypercholesterolemia Foundation, Pasadena, CA, USA; Department of Genetics, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, USA; Department of Medicine, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, USA; Department of Pediatrics, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, USA.