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Scientific showcase at ASHG 2024

Leveraging our expansive genomic database, we’re working to transform care for pediatric patients. See GeneDx research being presented at the American Association of Human Genetics Annual Meeting.

October 23, 2024 2 min read

At this year’s American Association of Human Genetics (ACMG) Annual Meeting, connect with GeneDx to learn how we’re working to unlock the future of genomic sequencing and end the diagnostic odyssey through innovation. Our scientific presence is powered by our expansive exome and genome database and driven by our dedication to equitable access to genomic sequencing.

This November 6 through 8, don’t miss presentations on the GUARDIAN study, new research on genetic etiologies, the diagnostic yield of exome sequencing in pediatric motor speech disorders, and more. The complete roster of speakers and events are below. 

Platform and plenary presentations

Wednesday, November 6

Time (MT)TitlePresenterRoomSession
9:15 – 9:30 amUnveiling the crucial neuronal role of the proteasomal ATPase subunit gene PSMC5 in neurodevelopmental proteasomopathiesJanelle Stanton, PhD (University of Limerick, Ireland)50512

Thursday, November 7

Time (MT)TitlePresenterRoomSession
1:30-1:45 pmUse of exclusion criteria to select critically ill newborns for rapid genome sequencing captures precise genetic diagnoses missed by use of conventional inclusion criteriaTara Wenger, MD, PhD (University of Washington)50554

Friday, November 8

Time (MT)TitlePresenterRoomSession
10:45-11:00 am Genome-wide profiling of highly similar paralogous genes using HiFi sequencingXiao Chen, PhD (PacBio)Four Seasons Ballroom 471
1:45-2:00 pm The largest to-date exome study of autism spectrum disorder triples the number of autism-associated genesFrederick Satterstrom, PhD (Broad Institute)40178
11:15-11:30 am Benchmarking detection of technically challenging pathogenic variants with long-read sequencing and a head-to-head comparison with short-read sequencing in a clinical diagnostic laboratoryJoseph M. Devaney, PhD (GeneDx)Four Seasons Ballroom 471
6:00-6:20 pm Expanded newborn screening using genome sequencing for early actionable conditions: results of the first 10,000 participants enrolled in the GUARDIAN studyWendy Chung, MD, PhD (Boston Children’s Hospital)Mile High Ballroom 86

Poster presentations

All poster presentations will be held in the Poster/Exhibit Hall.  

Thursday, November 7 | 2:30-4:30 pm MT

TitlePresenter
Racial disparities in access to a precise genetic diagnosis are not due to differences in diagnostic yieldsJessica X. Chong, PhD (University of Washington)
Partial methylation of a pathogenic XYLT1 repeat expansion associated with intrafamilial variation in severity of Desbuquois dysplasia 2Michael J. Bamshad, MD (University of Washington)

Friday, November 8 | 2:30-4:30 pm MT

TitlePresenter
Genetic etiologies and diagnostic yield of exome sequencing in pediatric motor speech disordersMarissa Mitchel, MS (Geisinger Autism & Developmental Medicine Institute)
Evaluating dosage sensitivity predictions for multigenic copy number variants to facilitate clinical interpretationErin Riggs, MS (Geisinger)
De novo variants in GTF2H1 underlie variable syndromic developmental delayKarynne Patterson, BS/BA (University of Washington)
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