ROCKVILLE, Md. – November 6, 2026 – The Association for Molecular Pathology (AMP), the premier global molecular diagnostic professional society, today highlighted several studies to be presented at the AMP 2026 Annual Meeting & Expo that demonstrate how advances in molecular testing could improve the diagnosis and management of diseases affecting children.
The research explores the potential to identify inherited conditions years before symptoms appear, improve the accuracy and accessibility of childhood cancer testing and track the spread of infectious diseases, including a deadly mpox outbreak involving newborns.
The AMP 2026 Annual Meeting & Expo will be held Nov. 10-14 at the Seattle Convention Center. Journalists can attend in person or request access to embargoed materials and interviews. Details are available at https://amp26.amp.org/media/media-information/ .
Highlights from the studies include:
Could genome testing at birth identify diseases years before symptoms appear?
Abstract G017: Whole-Genome Sequencing in an Adolescent Cohort: Results of Rapid and Ultra-Rapid Testing
Jennifer Schleit, Ph.D., Rady Children's Institute for Genomic Medicine
Oral presentation: Thursday, Nov. 12 | 2:30 p.m.
Poster presentation: Saturday, Nov. 14 | 9:15 a.m.
Whole-genome sequencing is increasingly used to diagnose critically ill newborns, but could testing at birth also identify conditions that might otherwise go undetected for years? Researchers at Rady Children's Institute for Genomic Medicine 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 that screening at birth could help some children receive a diagnosis years earlier.
Could new symptoms help solve previously unresolved genetic cases?
Abstract G027: Phenotype-Driven Reanalysis of Clinical Genome Sequencing Data Shows Comparable Yield in Originally Negative and Positive Reports
Jing Zhang, M.D., Ph.D., Rady Children's Institute for Genomic Medicine
Saturday, Nov. 14 | 9:15 a.m.
When a child's symptoms change, revisiting earlier genetic test results may uncover important new information. Researchers reanalyzed genome sequencing data from 21 children and identified new or additional findings in five cases (24%), including patients whose original tests were negative or who already had a genetic diagnosis. These findings included variants of uncertain significance that may help explain the children's symptoms. Neurological and developmental changes were common among children with additional findings, highlighting the value of reanalyzing genetic data when new symptoms arise, even in children with an existing diagnosis. Because reanalysis was prompted by clinical changes, the study could not compare this approach with routine reanalysis at set intervals.
Could a single test improve the diagnosis of childhood brain tumors?
Abstract ST015: Clinical Evaluation of Whole-Genome Enzymatic Methylation Sequencing for Integrated Classification and Copy Number Profiling of Pediatric Central Nervous System Tumors
Jianling Ji, M.D., Children's Hospital Los Angeles / Keck School of Medicine of USC
Saturday, Nov. 14 | 1:45 p.m.
Accurate classification of childhood brain tumors is important for diagnosis and treatment, but 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 uses an optimal DNA input of 20 ng but could generate reliable results as low as 2 ng when quality-control criteria were met, supporting its potential to provide complementary diagnostic information while conserving limited tumor tissue.
Could AI make advanced childhood leukemia testing more accessible?
Abstract H011: An Ensemble Machine Learning Classifier for B-ALL Molecular Subtyping via Targeted RNA-seq: A Cost-Effective Approach for Resource-Limited Settings
Joaquín García-Solorio, Ph.D., Instituto Nacional de Medicina Genómica
Saturday, Nov. 14 | 9:15 a.m.
Identifying the molecular subtype of childhood leukemia helps doctors assess risk and guide treatment, but advanced testing can be costly and difficult to access. Researchers in Mexico developed a machine learning approach that uses 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 by subtype, the findings point to a potentially more affordable way to expand access to molecular cancer diagnostics, particularly in resource-limited settings.
Are germline cancer predisposition variants more common in childhood brain tumors than previously thought?
Abstract G022: Prevalence of Cancer Predisposition Variants in Medulloblastoma
Swetha Ramadesikan, Ph.D., Nationwide Children's Hospital
Thursday, Nov. 12 | 3:30 pm and Friday, Nov. 13 | 9:15 a.m.
Germline predisposition variants may contribute to more cases of medulloblastoma, a type of childhood brain cancer, than previously recognized. Researchers at Nationwide Children's Hospital 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 one molecular subgroup, sonic hedgehog medulloblastoma, the prevalence reached 41.8%. The findings underscore the potential value of genetic testing to assess inherited germline cancer risk, inform clinical management and guide genetic counseling for families.
How can genomic surveillance be used to track a deadly mpox outbreak spread among newborns?
Abstract ID045: Neonatal Healthcare-Associated Mpox Cluster Linked to Reverse Vertical Transmission and Community Spread in Sindh, Pakistan
Saeed Khan, Ph.D., Dow University of Health Sciences
Friday, Nov. 13 | 12:55 p.m.
A deadly mpox outbreak in Pakistan highlights the importance of molecular testing for tracking infectious diseases and protecting vulnerable newborns. During the 2026 outbreak, researchers confirmed 33 infections among 305 suspected cases, including 21 pediatric patients. Nine infants younger than 2 months died. Using whole-genome sequencing and transmission modeling, researchers investigated potential transmission pathways involving newborns, caregivers and the surrounding community. The findings demonstrate how genomic surveillance can help uncover transmission patterns and inform efforts to contain emerging infectious disease outbreaks.
