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An algorithm to identify patients aged 0-3 with rare genetic disorders.

Bryn D Webb1,2, Lisa Y Lau3, Despina Tsevdos4

  • 1Department of Pediatrics, University of Wisconsin School of Medicine and Public Health, Madison, WI, USA. bdwebb@wisc.edu.

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A new algorithm, PheIndex, uses electronic health records to identify children at risk for rare genetic disorders. This tool aids in early diagnosis and genetic testing referrals for pediatric patients.

Keywords:
AlgorithmClinical decision-makingDigital phenotypingPediatric genetic disorders

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Area of Science:

  • Pediatric rare diseases
  • Clinical informatics
  • Genomic medicine

Background:

  • Identifying rare genetic disorders in children is difficult due to incomplete electronic health records and coding inaccuracies.
  • Over 7000 Mendelian disorders exist, presenting diagnostic challenges in early childhood.
  • There is a need for improved methods to detect genetic conditions in young children.

Purpose of the Study:

  • To develop and validate a digital phenotyping algorithm (PheIndex) for identifying children aged 0-3 at risk for genetic disorders.
  • To leverage electronic medical record data for early detection of rare genetic conditions.
  • To improve the diagnostic pathway for pediatric patients with potential genetic disorders.

Main Methods:

  • Developed the PheIndex algorithm based on 13 criteria derived from expert opinion.
  • Utilized electronic medical records to identify children aged 0-3 with potential genetic disorder diagnoses or risks.
  • Validated algorithm performance through comprehensive chart review.

Main Results:

  • The PheIndex algorithm identified 1,088 children at increased risk for genetic disorders out of 93,154 live births.
  • Chart review confirmed the algorithm's high performance: 90% sensitivity, 97% specificity, and 94% accuracy.
  • The algorithm successfully flagged children requiring further genetic evaluation.

Conclusions:

  • The PheIndex algorithm effectively identifies children who may have a rare genetic disorder.
  • This tool can prompt healthcare providers to consider diagnostic genetic testing or referral to a medical geneticist.
  • PheIndex enhances the early detection and management of genetic conditions in pediatric populations.