GeneDx Presents Evidence for Wider Clinical Use of Genomic Sequencing at ASHG 2026

The research examines how exome and genome sequencing can improve the diagnosis of rare diseases, support genomic newborn screening, and identify genetic causes of neurodevelopmental conditions.

The research focuses on five areas: AI-assisted genomic interpretation, broader clinical use of exome and genome sequencing, translation of genomic data into clinical insights, gene discovery, and equitable newborn screening. Nine abstracts address gene discovery through GeneDx Infinity, GeneMatcher, and global collaborations, while other studies examine the clinical and economic value of genomic testing as a first-line diagnostic approach.

One study from the GUARDIAN newborn screening program examines genomic screening results from more than 19,000 newborns representing diverse genetic ancestries. Researchers are evaluating screen-positive rates and genetic variant findings to better understand how population diversity influences genomic screening outcomes and inform broader implementation of newborn genomic testing.

Another study analyzes exome sequencing data from more than 100,000 individuals with autism to identify factors influencing molecular diagnostic yield. The research examines how genomic testing can detect underlying genetic conditions in patients with complex neurodevelopmental disorders, providing additional evidence to inform the clinical use of exome sequencing.

GeneDx is also presenting research on the use of machine learning to improve the interpretation of copy number variants (CNVs) detected through genomic sequencing. The approach uses dynamic feature reconstruction to prioritize clinically relevant variants, with artificial intelligence (AI) supporting expert review of genetic findings and helping streamline the analysis of complex genomic data.

Additional research focuses on identifying genes associated with developmental disorders. One analysis of 184,786 parent-child trios investigates more than 100 newly identified disease-associated genes and candidate haplolethal genes. Another study examines variants in the SFPQ gene associated with a dominant neurodevelopmental syndrome, expanding research into the genetic causes of rare conditions.

Other presentations explore the clinical significance of RNU4-2 variants and the use of genotype-first reanalysis to identify previously unrecognized genetic diagnoses. A separate study involving 25,000 individuals investigates the genetic architecture of microcephaly, examining how rare genetic variants contribute to abnormal brain development.

The broader research program includes studies of rare variant detection, structural genomic alterations, AI-assisted phenotype modeling, rapid neonatal genome sequencing, and cardiovascular genetics. Several analyses also examine the clinical and economic implications of using exome and genome sequencing as first-line diagnostic approaches for patients with suspected genetic disorders.

GeneDx’s research is supported by GeneDx Infinity, a large rare disease genomic dataset used to investigate genetic variation and identify disease-associated genes. The company's ExomeDx and GenomeDx tests analyze genetic information to help clinicians diagnose inherited conditions. The platform also supports research collaborations focused on gene discovery and genomic interpretation.

“Advancing genomic medicine means turning scientific discovery into meaningful answers for patients,” said Linda Genen, MD, MPH, Chief Medical Officer at GeneDx. She added that the company's clinical data, technology, and research collaborations are helping build evidence for making exome and genome sequencing more accessible and useful across medical specialties.

Related Links
GeneDx