Studies at the 2026 AMP Annual Meeting highlight how genomic testing in children can enable earlier diagnoses and improved cancer classification, with Rady researchers reporting positive findings in 36% of adolescents tested.
Studies being presented at the Association for Molecular Pathology (AMP) 2026 Annual Meeting & Expo show how molecular testing could improve the diagnosis and management of diseases in children. The research looks at identifying inherited conditions before symptoms appear, improving childhood cancer testing, and tracking infectious disease spread.
The meeting is being held Nov 10-14 at the Seattle Convention Center.
Genome Sequencing for Inherited Conditions
Whole-genome sequencing is increasingly used to diagnose critically ill newborns. Researchers at Rady Children’s Institute for Genomic Medicine asked whether testing at birth could also catch conditions that might otherwise go undetected for years.
The team reviewed genetic testing results from 177 adolescents ages 13 to 19 and identified positive findings in 64 patients (36.2%). Eight of those findings met the criteria for an existing newborn genomic screening program, suggesting screening at birth could help some children receive a diagnosis years earlier (Abstract G017, presented by Jennifer Schleit, PhD).
A second Rady Children’s study examined whether revisiting earlier results can help when a child’s symptoms change. Researchers reanalyzed genome sequencing data from 21 children and identified new or additional findings in five cases (24%). These included patients whose original tests were negative and those who already had a genetic diagnosis. Some of the findings were variants of uncertain significance that may help explain the children’s symptoms.
Neurological and developmental changes were common among children with additional findings. Because reanalysis was prompted by clinical changes, the study could not compare this approach with routine reanalysis at set intervals (Abstract G027, presented by Jing Zhang, MD, PhD).
Childhood Cancer Diagnostics
Classifying childhood brain tumors accurately is important for diagnosis and treatment. However, molecular testing can require multiple assays and consume limited tumor tissue. Researchers at Children’s Hospital Los Angeles evaluated a whole-genome enzymatic methylation sequencing test that combines DNA methylation sequencing-based tumor classification and copy-number analysis in a single low-input workflow.
Among 202 central nervous system tumors, 195 (96.5%) yielded a reportable methylation-family classification, of which 176 (90.3%) were concordant with the integrated reference diagnosis. Copy number profiles were fully concordant with clinical chromosomal microarray results in 24 of 29 cases and directionally concordant in the remaining five.
The assay’s optimal DNA input is 20 ng, but it could generate reliable results as low as 2 ng when quality-control criteria were met. This supports its potential to provide complementary diagnostic information while conserving tumor tissue (Abstract ST015, presented by Jianling Ji, MD).
In a separate study, researchers in Mexico developed a machine learning approach that uses targeted RNA sequencing to classify B-cell acute lymphoblastic leukemia, aiming to ease the cost and access barriers of advanced testing. The method achieved 82.3% accuracy across 12 molecular subtypes in 170 pediatric patients. Performance varied by subtype. The findings point to a potentially more affordable way to expand access to molecular cancer diagnostics, particularly in resource-limited settings (Abstract H011, presented by JoaquÃn GarcÃa-Solorio, PhD, of the Instituto Nacional de Medicina Genómica).
Researchers at Nationwide Children’s Hospital also examined germline cancer predisposition in medulloblastoma, a childhood brain cancer. They analyzed genomic data from 587 children diagnosed with medulloblastoma and enrolled in the Molecular Cancer Initiative study and identified germline cancer-predisposition variants in 95 patients (16.2%). In sonic hedgehog medulloblastoma, prevalence reached 41.8%. The findings underscore the potential value of genetic testing to assess inherited cancer risk, inform clinical management, and guide genetic counseling for families (Abstract G022, presented by Swetha Ramadesikan, PhD).
Genomic Surveillance of an Mpox Outbreak
A study from Dow University of Health Sciences examined a deadly mpox outbreak in Sindh, Pakistan. During the 2026 outbreak, researchers confirmed 33 infections among 305 suspected cases, including 21 pediatric patients. Nine infants younger than 2 months died.
The team used whole-genome sequencing and transmission modeling to investigate potential transmission pathways involving newborns, caregivers, and the surrounding community. The findings show how genomic surveillance can help uncover transmission patterns and inform efforts to contain emerging infectious disease outbreaks (Abstract ID045, presented by Saeed Khan, PhD).
