GeneDx to Highlight Key Research Findings at American Society of Human Genetics (ASHG) Annual Meeting
SMFR 11.04.2024
Date of Upcoming Event:2024-11-06
Name of Upcoming Event:2024 American Society of Human Genetics (ASHG) annual meeting
Date of Upcoming Event:2024-11-07
Name of Upcoming Event:2024 American Society of Human Genetics (ASHG) annual meeting
Date of Upcoming Event:2024-11-08
Name of Upcoming Event:2024 American Society of Human Genetics (ASHG) annual meeting
Data to be presented showcasing GeneDx’s ongoing commitment to spearheading industry-leading research to drive transformational clinical utility
Research to be presented this week at ASHG will include:
Rapid whole genome sequencing (rWGS) in the NICU leads to changes in clinical care:
- In collaboration with SeqFirst, patient cases were analyzed when a diagnosis was found with rWGS to understand how decisions were made with genomic sequencing and what is missed in its absence when only using conventional care protocols.
Racial disparities in an accurate genetic diagnosis:
- In one of the largest studies to look at ancestral backgrounds and genetic diagnosis, GeneDx, the
University of Washington , and Geisinger explore the value of a diverse dataset to understand diagnostic yield and if it varies significantly based on ancestral background or if other factors are limiting access to a genetic diagnosis.
Data validation for long read sequencing:
- With growing interest in the field to explore the clinical utility of long read sequencing, validation data will be presented assessing the sensitivity of PacBio’s HiFi long read sequencing to detect cases with a confirmed answer on short read whole genome sequencing (WGS) Additional cases where long read sequencing uncovered pathogenic variants that were difficult to detect on short read WGS will be presented.
Genetic variants linked to Autism Spectrum Disorder (ASD):
- Working alongside the
Autism Sequencing Consortium , research identifies 230 new genes associated with ASD. This molecular evidence underscores the effectiveness and accuracy of genetic diagnostics compared to current methods, which rely on parents’ or caregivers’ accounts of their child's development or professional observations of behavior.
“The opportunity to present these findings at ASHG underscores GeneDx’s commitment to advancing genomic research to move forward its application in clinical settings,” said Dr.
Presentations:
Wednesday, November 6 ,9:15 am MT : Unveiling the crucial neuronal role of the proteasomal ATPase subunit gene PSMC5 in neurodevelopmental proteasomopathies.Janelle Stanton , PhD (University of Limerick ,Ireland ) - Room 505 Session 12Thursday, November 7 at1:30 pm MT : Use of exclusion criteria to select critically ill newborns for rapid genome sequencing captures precise genetic diagnoses missed by use of conventional inclusion criteria.Tara Wenger , MD, PhD (University of Washington ) – Room 505 Session 54Friday, November 8 at10:45 am MT : Genome-wide profiling of highly similar paralogous genes using HiFi sequencing.Xiao Chen , PhD (PacBio) –Four Seasons Ballroom 4 Session 71Friday, November 8 at11:15 am MT : 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 laboratory.Joseph M. Devaney , PhD (GeneDx ) –Four Seasons Ballroom 4 Session 71Friday, November 8 at1:45 pm MT : The largest to-date exome study of autism spectrum disorder triples the number of autism-associated genes.Frederick Satterstrom , PhD (Broad Institute ) – Room 401 Session 78Friday, November 8 at6:00 pm MT : Expanded newborn screening using genome sequencing for early actionable conditions: results of the first 10,000 participants enrolled in the GUARDIAN study.Wendy Chung , MD, PhD (Boston Children’s Hospital) – Mile High Ballroom Session 86
Posters:
Thursday, November 7 at2:30 pm MT : Racial disparities in access to a precise genetic diagnosis are not due to differences in diagnostic yields.Jessica X. Chong , PhD (University of Washington )Thursday, November 7 at2:30 pm MT : Partial methylation of a pathogenicXYLT1repeat expansion associated with intrafamilial variation in severity of Desbuquois dysplasia 2.Michael J. Bamshad , MD (University of Washington )Friday, November 8 at2:30 pm MT : Genetic etiologies and diagnostic yield of exome sequencing in pediatric motor speech disorders.Marissa Mitchel , MS (Geisinger Autism & Developmental Medicine Institute )Friday, November 8 at2:30 pm MT : Evaluating dosage sensitivity predictions for multigenic copy number variants to facilitate clinical interpretation.Erin Riggs , MS (Geisinger)Friday, November 8 at2:30 pm MT : De novo variants inGTF2H1underlie variable syndromic developmental delay.Karynne Patterson , BS/BA (University of Washington )
About
View source version onbusinesswire.com:https://www.businesswire.com/news/home/20241104129692/en/
Source: