AI Article Synopsis
- - The study addresses the difficulty in identifying rare genetic disorders in children due to issues like incomplete records and varied symptoms, aiming to create an algorithm called PheIndex using electronic medical records.
- - PheIndex was developed with 13 expert-established criteria and validated through chart reviews, successfully identifying 1,088 children at risk among over 93,000 live births with strong performance metrics: 90% sensitivity, 97% specificity, and 94% accuracy.
- - The algorithm serves as a tool for healthcare providers to detect potential rare genetic disorders, prompting them to consider further diagnostic testing or referrals to genetic specialists.
Article Abstract
Background: With over 7000 Mendelian disorders, identifying children with a specific rare genetic disorder diagnosis through structured electronic medical record data is challenging given incompleteness of records, inaccurate medical diagnosis coding, as well as heterogeneity in clinical symptoms and procedures for specific disorders. We sought to develop a digital phenotyping algorithm (PheIndex) using electronic medical records to identify children aged 0-3 diagnosed with genetic disorders or who present with illness with an increased risk for genetic disorders.
Results: Through expert opinion, we established 13 criteria for the algorithm and derived a score and a classification. The performance of each criterion and the classification were validated by chart review. PheIndex identified 1,088 children out of 93,154 live births who may be at an increased risk for genetic disorders. Chart review demonstrated that the algorithm achieved 90% sensitivity, 97% specificity, and 94% accuracy.
Conclusions: The PheIndex algorithm can help identify when a rare genetic disorder may be present, alerting providers to consider ordering a diagnostic genetic test and/or referring a patient to a medical geneticist.
Download full-text PDF |
Source |
|---|---|
| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC11064409 | PMC |
| http://dx.doi.org/10.1186/s13023-024-03188-9 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Want AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!