Piloting an Interpretive External Quality Assurance Model for Genomic Testing for Childhood Syndromes and Intellectual Disability

Few external quality assurance programs adequately address the complexity of large-scale human genome or exome analysis. To bridge this gap, Australian Genomics and the Royal College of Pathologists Australasia Quality Assurance Program (QAP) developed a pilot interpretive module focused on genomic testing for childhood syndromes and intellectual disabilities. The program assessed laboratories’ proficiency in interpreting complex genomic data for pediatric disorders.Six clinically accredited laboratories analyzed standardized genomic, phenotypic, and referral data.