GeneDx to Highlight Key Research Findings at American Society of Human Genetics (ASHG) Annual Meeting
GeneDx (WGS) announced its research presentations at the 2024 ASHG annual meeting, featuring six platform presentations and five posters. The research leverages their database of over 700,000 clinical exome and genomes to advance pediatric care through genomic insights. Key studies include collaboration with SeqFirst on rapid whole genome sequencing in NICU, research on racial disparities in genetic diagnosis with University of Washington, data validation for long read sequencing with PacBio, and identification of 230 new genes associated with Autism Spectrum Disorder through the Autism Sequencing Consortium.
GeneDx (WGS) ha annunciato le sue presentazioni di ricerca durante il congresso annuale ASHG 2024, che includono sei presentazioni di piattaforma e cinque poster. La ricerca sfrutta il loro database di oltre 700.000 esomi e genomi clinici per migliorare le cure pediatriche attraverso intuizioni genomiche. Gli studi chiave comprendono la collaborazione con SeqFirst per il sequenziamento rapido del genoma intero in NICU, la ricerca sulle disparità razziali nella diagnosi genetica con l'Università di Washington, la validazione dei dati per il sequenziamento a lungo raggio con PacBio e l'identificazione di 230 nuovi geni associati ai disturbi dello spettro autistico attraverso il Consorzio di Sequenziamento dell'Autismo.
GeneDx (WGS) anunció sus presentaciones de investigación en la reunión anual de ASHG 2024, con seis presentaciones y cinco carteles. La investigación utiliza su base de datos de más de 700.000 exomas y genomas clínicos para avanzar en la atención pediátrica a través de conocimientos genómicos. Los estudios clave incluyen la colaboración con SeqFirst en el secuenciación rápida de genomas completos en NICU, investigación sobre disparidades raciales en diagnósticos genéticos con la Universidad de Washington, validación de datos para secuenciación de lecturas largas con PacBio, e identificación de 230 nuevos genes asociados con el Trastorno del Espectro Autista a través del Consorcio de Secuenciación del Autismo.
GeneDx (WGS)는 2024 ASHG 연례 회의에서 여섯 가지 플랫폼 발표와 다섯 개의 포스터를 포함한 연구 발표를 발표했습니다. 이 연구는 700,000개 이상의 임상 엑솜 및 게놈 데이터베이스를 활용하여 유전자 통찰력을 통해 소아 치료를 발전시키고 있습니다. 주요 연구에는 NICU에서의 빠른 전장 유전체 시퀀싱에 대한 SeqFirst와의 협업, 워싱턴 대학교와의 유전자 진단의 인종적 불평등 연구, PacBio를 통한 긴 읽기 시퀀싱 데이터 검증, 그리고 자폐 스펙트럼 장애와 관련된 230개의 새로운 유전자 식별이 포함됩니다. 자폐 시퀀싱 컨소시엄을 통해.
GeneDx (WGS) a annoncé ses présentations de recherche lors de la réunion annuelle ASHG 2024, comprenant six présentations de plateforme et cinq affiches. La recherche exploite leur base de données de plus de 700 000 exomes et génomes cliniques pour améliorer les soins pédiatriques grâce à des informations génomiques. Les études clés comprennent une collaboration avec SeqFirst sur le séquençage génomique complet rapide en NICU, une recherche sur les disparités raciales dans le diagnostic génétique avec l'Université de Washington, la validation des données pour le séquençage à longues lectures avec PacBio, et l'identification de 230 nouveaux gènes associés aux troubles du spectre autistique grâce au Consortium de séquençage de l'autisme.
GeneDx (WGS) gab seine Forschungsvorträge auf dem 2024 ASHG-Jahrestreffen bekannt, darunter sechs Plattform-Präsentationen und fünf Poster. Die Forschung nutzt ihre Datenbank mit über 700.000 klinischen Exomen und Genomen, um die pädiatrische Versorgung durch genomische Erkenntnisse voranzubringen. Zu den wichtigsten Studien zählen die Zusammenarbeit mit SeqFirst zur schnellen Sequenzierung des gesamten Genoms in der NICU, die Forschung zu Rassendiskrepanzen in der genetischen Diagnose mit der Universität von Washington, die Datenvalidierung für langes Lesen mit PacBio und die Identifizierung von 230 neuen Genen, die mit Autismus-Spektrum-Störungen in Verbindung stehen, durch das Autism Sequencing Consortium.
- Database of over 700,000 clinical exome and genomes positions company as industry leader
- Identification of 230 new genes associated with ASD demonstrates research advancement
- Strategic collaborations with multiple prestigious institutions enhance research capabilities
- None.
Data to be presented showcasing GeneDx’s ongoing commitment to spearheading industry-leading research to drive transformational clinical utility
GeneDx leverages its database as a critical tool in a number of studies to drive transformational clinical care for pediatric patients as the industry continues to look for strong evidence to expand the utilization and clinical utility of genome sequencing. Through these strategic collaborations with SeqFirst, The University of
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:
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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. Paul Kruszka, MD, FACMG, Chief Medical Officer at GeneDx. “Our collaborations with leading research initiatives allow us to leverage our industry-leading dataset to drive innovation and improve patient outcomes. Across the board this work not only highlights the proven clinical utility of genomic testing but emphasizes the importance of equitable access.”
GeneDx collaborated on the following:
Presentations:
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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 12 -
Thursday, November 7 at 1:30 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 54 - Friday, November 8 at 10:45 am MT: Genome-wide profiling of highly similar paralogous genes using HiFi sequencing. Xiao Chen, PhD (PacBio) – Four Seasons Ballroom 4 Session 71
- Friday, November 8 at 11:15 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 71
- Friday, November 8 at 1:45 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 78
- Friday, November 8 at 6:00 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:
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Thursday, November 7 at 2:30 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 at 2:30 pm MT: Partial methylation of a pathogenic XYLT1 repeat expansion associated with intrafamilial variation in severity of Desbuquois dysplasia 2. Michael J. Bamshad, MD (University of
Washington ) - Friday, November 8 at 2:30 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 at 2:30 pm MT: Evaluating dosage sensitivity predictions for multigenic copy number variants to facilitate clinical interpretation. Erin Riggs, MS (Geisinger)
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Friday, November 8 at 2:30 pm MT: De novo variants in GTF2H1 underlie variable syndromic developmental delay. Karynne Patterson, BS/BA (University of
Washington )
About GeneDx:
GeneDx (Nasdaq: WGS) delivers personalized and actionable health insights to inform diagnosis, direct treatment, and improve drug discovery. The company is uniquely positioned to accelerate the use of genomic and large-scale clinical information to enable precision medicine as the standard of care. GeneDx is at the forefront of transforming healthcare through its industry-leading exome and genome testing and interpretation services, fueled by the world’s largest, rare disease data sets. For more information, please visit www.genedx.com and connect with us on LinkedIn, Facebook, and Instagram.
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Source: GeneDx
FAQ
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