AMP 2026 Highlights Advances in Molecular Testing for Pediatric Diseases

Researchers presenting at the Association for Molecular Pathology (AMP) 2026 Annual Meeting & Expo are highlighting studies that demonstrate how genomic sequencing, artificial intelligence (AI), and other molecular technologies could improve pediatric diagnosis and clinical management.

The AMP 2026 Annual Meeting & Expo, taking place November 10–14 at the Seattle Convention Center in Seattle, Washington, brings together molecular pathology professionals to discuss developments in diagnostic testing and precision medicine. Among the research being presented are six studies addressing genetic disease detection, pediatric oncology, and infectious disease surveillance.

Researchers at Rady Children’s Institute for Genomic Medicine evaluated whole-genome sequencing results from 177 adolescents aged 13–19 and identified positive genetic findings in 64 patients (36.2%). Eight of these findings met the criteria for an existing newborn genomic screening program, suggesting that testing at birth could identify certain inherited disorders years before symptoms develop and potentially enable earlier clinical intervention.

In a separate study, researchers at Rady Children’s Institute for Genomic Medicine reanalyzed genome sequencing data from 21 children following changes in their clinical symptoms and identified new or additional genetic findings in five cases (24%). Neurological and developmental changes were common among patients with additional findings, highlighting the potential value of revisiting previous sequencing results when new symptoms emerge, even in children who already have a genetic diagnosis.

Researchers at Children’s Hospital Los Angeles evaluated a whole-genome enzymatic methylation sequencing assay that combines tumor classification and copy-number profiling in a single workflow. Among 202 pediatric central nervous system tumors, the test produced reportable classifications in 96.5% of cases, with 90.3% of those classifications agreeing with the integrated reference diagnosis. The assay also generated reliable results using as little as 2 ng of DNA under appropriate quality-control conditions, demonstrating its potential to improve molecular diagnosis while conserving limited tumor tissue.

In another pediatric oncology study, researchers at Mexico’s Instituto Nacional de Medicina Genómica developed a machine learning approach using targeted RNA sequencing to classify B-cell acute lymphoblastic leukemia. The method achieved 82.3% accuracy across 12 molecular subtypes in 170 pediatric patients, although performance varied among subtypes. The findings suggest that combining targeted sequencing with computational analysis could provide a more affordable approach to molecular leukemia classification, particularly in healthcare settings with limited access to advanced diagnostic technologies.

Researchers at Nationwide Children’s Hospital analyzed genomic data from 587 children diagnosed with medulloblastoma and identified germline cancer-predisposition variants in 95 patients (16.2%). The prevalence was particularly high in the sonic hedgehog molecular subgroup, reaching 41.8%, suggesting that inherited genetic susceptibility may contribute to more cases of pediatric brain cancer than previously recognized. These findings underscore the importance of germline genetic testing to inform clinical management, assess inherited cancer risks, and guide genetic counseling for affected families.

In infectious disease research, investigators at Dow University of Health Sciences used whole-genome sequencing and transmission modeling to investigate an mpox outbreak in Pakistan involving 33 confirmed infections among 305 suspected cases, including 21 pediatric patients. Nine infants younger than two months died during the outbreak, prompting researchers to investigate potential transmission pathways involving newborns, caregivers, and the surrounding community. The findings highlight how genomic surveillance can help identify transmission patterns, investigate healthcare-associated infections, and inform public health measures to contain emerging infectious disease outbreaks.

Together, the studies presented at AMP 2026 highlight the expanding role of molecular diagnostics in pediatric healthcare, from earlier identification of genetic disorders and more precise cancer classification to improved monitoring of emerging infectious diseases. The findings also demonstrate how advances in genomic technologies and computational approaches could improve diagnostic accuracy, expand access to specialized testing, and support more individualized clinical care for children.

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Association for Molecular Pathology