Clinical Validity Scoring Guides Updates to Expanded Secondary Findings; Comparison with BabySeq Scores.
Evidence-based clinical validity analysis can help select genes for screening panels targeting various populations, from sick newborns to healthy adults.
Clinical validity scores for matching gene-disease pairs showed high concordance (64% exact match) despite different curators and scoring systems.
Periodic clinical validity review of genes on panel is essential to stay accurate; both Ambry and BabySeq prioritize characterized genes.