GeneDx (Nasdaq: WGS), a leader in leveraging genomic insights to improve health outcomes, today announced its scientific contributions for the 2024 American Society of Human Genetics (ASHG) Annual Meeting. GeneDx will present data across six platform sessions and five posters, showcasing findings from key research initiatives built on its extensive and diverse dataset of over 700,000 clinical exomes and genomes.
GeneDx, a leader in genomic testing, is showcasing the impact of its extensive dataset in driving clinical care for pediatric patients at the 2024 American Society of Human Genetics (ASHG) Annual Meeting. Through strategic collaborations with SeqFirst, the University of Washington, PacBio, the Autism Sequencing Consortium, and GUARDIAN, GeneDx demonstrates the accessibility, affordability, and clinical utility of exome and whole genome sequencing (WGS) in pediatric care.
Key research to be presented at ASHG includes:
- Rapid Whole Genome Sequencing (rWGS) in NICU: In collaboration with SeqFirst, GeneDx will present findings showing how rWGS in neonatal intensive care leads to significant changes in clinical care, highlighting what can be missed when conventional care protocols are used.
- Racial Disparities in Genetic Diagnosis: GeneDx, the University of Washington, and Geisinger will present one of the largest studies on genetic diagnosis across diverse ancestral backgrounds, emphasizing how a diverse dataset can improve diagnostic yield and access to genetic diagnoses.
- Long Read Sequencing Data Validation: In partnership with PacBio, GeneDx will share validation data on the clinical utility of PacBio’s HiFi long-read sequencing, showing its ability to detect pathogenic variants missed by short-read sequencing.
- Genetic Variants in Autism Spectrum Disorder (ASD): Working with the Autism Sequencing Consortium, GeneDx will present findings identifying 230 new genes associated with ASD, highlighting the accuracy of genetic diagnostics compared to traditional methods reliant on behavioral observations.
“Our collaborations with leading research initiatives allow us to leverage our industry-leading dataset to drive innovation and improve patient outcomes,” said Dr. Paul Kruszka, Chief Medical Officer at GeneDx. “These studies highlight not only the clinical utility of genomic testing but also the critical need for equitable access to these technologies.”
GeneDx will also be featured in several key presentations during the ASHG meeting:
- November 6, 9:15 am MT: Neuronal role of PSMC5 in neurodevelopmental proteasomopathies – Janelle Stanton, PhD (University of Limerick)
- November 7, 1:30 pm MT: Rapid genome sequencing for critically ill newborns – Tara Wenger, MD, PhD (University of Washington)
- November 8, 10:45 am MT: Genome-wide profiling using HiFi sequencing – Xiao Chen, PhD (PacBio)
- November 8, 11:15 am MT: Benchmarking long-read sequencing for detecting pathogenic variants – Joseph M. Devaney, PhD (GeneDx)
- November 8, 1:45 pm MT: Largest ASD exome study triples number of autism-associated genes – Frederick Satterstrom, PhD (Broad Institute)
- November 8, 6:00 pm MT: Expanded newborn screening using genome sequencing – Wendy Chung, MD, PhD (Boston Children’s Hospital)
GeneDx’s contributions to genomic research reflect the ongoing evolution of precision medicine in pediatric care, advancing both scientific understanding and clinical practices.
