GeneDx to Showcase Key Research and Innovation at the 2025 American College of Medical Genetics (ACMG) Annual Meeting
GeneDx (WGS) announced its upcoming presentations at the 2025 American College of Medical Genetics and Genomics (ACMG) Annual Meeting, showcasing its genomic research and innovation through three platform presentations and two poster presentations.
The company will present its AI-powered gene ranker Multiscore, which prioritizes genes with positive findings in exome and genome sequences by analyzing patient clinical data. This tool aims to accelerate analysis, reduce turnaround times, and lower costs for patients.
Additionally, GeneDx will present findings from an RNA sequencing program for variant of uncertain significance (VUS) resolution, and showcase collaborations with PacBio, GUARDIAN, and Seqfirst. The research presentations include studies on HiFi sequencing applications, expanded newborn screening, and parental needs during pediatric whole genome sequencing.
GeneDx (WGS) ha annunciato le sue prossime presentazioni al 2025 American College of Medical Genetics and Genomics (ACMG) Annual Meeting, mettendo in mostra la sua ricerca genomica e innovazione attraverso tre presentazioni sulla piattaforma e due presentazioni poster.
L'azienda presenterà il suo gene ranker Multiscore potenziato dall'AI, che prioritizza i geni con risultati positivi nelle sequenze di esoma e genoma analizzando i dati clinici dei pazienti. Questo strumento mira ad accelerare l'analisi, ridurre i tempi di risposta e abbattere i costi per i pazienti.
Inoltre, GeneDx presenterà i risultati di un programma di sequenziamento RNA per la risoluzione delle varianti di significato incerto (VUS) e metterà in evidenza collaborazioni con PacBio, GUARDIAN e Seqfirst. Le presentazioni di ricerca includono studi sulle applicazioni del sequenziamento HiFi, screening neonatale espanso e bisogni dei genitori durante il sequenziamento del genoma intero pediatrico.
GeneDx (WGS) anunció sus próximas presentaciones en el 2025 American College of Medical Genetics and Genomics (ACMG) Annual Meeting, mostrando su investigación e innovación genómica a través de tres presentaciones en plataforma y dos presentaciones en póster.
La empresa presentará su clasificador de genes Multiscore impulsado por IA, que prioriza los genes con hallazgos positivos en secuencias de exoma y genoma al analizar los datos clínicos de los pacientes. Esta herramienta tiene como objetivo acelerar el análisis, reducir los tiempos de respuesta y disminuir los costos para los pacientes.
Además, GeneDx presentará hallazgos de un programa de secuenciación de ARN para la resolución de variantes de significado incierto (VUS) y mostrará colaboraciones con PacBio, GUARDIAN y Seqfirst. Las presentaciones de investigación incluyen estudios sobre aplicaciones de secuenciación HiFi, cribado neonatal ampliado y necesidades parentales durante la secuenciación del genoma completo pediátrico.
GeneDx (WGS)는 2025 미국 의학 유전학 및 유전체학 연례 회의(ACMG Annual Meeting)에서의 발표를 예고하며, 3개의 플랫폼 발표와 2개의 포스터 발표를 통해 유전체 연구와 혁신을 선보일 예정입니다.
회사는 환자의 임상 데이터를 분석하여 엑솜 및 게놈 서열에서 긍정적인 결과를 가진 유전자를 우선 순위로 정하는 AI 기반 유전자 순위 도구 Multiscore를 발표할 것입니다. 이 도구는 분석을 가속화하고, 처리 시간을 단축하며, 환자의 비용을 낮추는 것을 목표로 합니다.
또한 GeneDx는 불확실한 의미의 변이(VUS) 해결을 위한 RNA 시퀀싱 프로그램의 결과를 발표하고, PacBio, GUARDIAN, Seqfirst와의 협업을 소개할 것입니다. 연구 발표에는 HiFi 시퀀싱 응용, 확장된 신생아 선별 검사, 소아 전체 게놈 시퀀싱 중 부모의 필요에 대한 연구가 포함됩니다.
GeneDx (WGS) a annoncé ses prochaines présentations lors de la 2025 American College of Medical Genetics and Genomics (ACMG) Annual Meeting, mettant en avant sa recherche génomique et son innovation à travers trois présentations sur plateforme et deux présentations d'affiches.
L'entreprise présentera son classeur de gènes Multiscore alimenté par IA, qui priorise les gènes avec des résultats positifs dans les séquences d'exome et de génome en analysant les données cliniques des patients. Cet outil vise à accélérer l'analyse, réduire les délais de traitement et diminuer les coûts pour les patients.
De plus, GeneDx présentera les résultats d'un programme de séquençage d'ARN pour la résolution des variantes de signification incertaine (VUS) et mettra en avant des collaborations avec PacBio, GUARDIAN et Seqfirst. Les présentations de recherche incluent des études sur les applications de séquençage HiFi, le dépistage néonatal élargi et les besoins des parents lors du séquençage du génome entier pédiatrique.
GeneDx (WGS) hat seine bevorstehenden Präsentationen auf dem 2025 American College of Medical Genetics and Genomics (ACMG) Annual Meeting angekündigt und wird seine genomische Forschung und Innovation durch drei Plattformpräsentationen und zwei Posterpräsentationen vorstellen.
Das Unternehmen wird seinen KI-gestützten Gen-Ranker Multiscore präsentieren, der Gene mit positiven Ergebnissen in Exom- und Genomsequenzen priorisiert, indem er die klinischen Daten der Patienten analysiert. Dieses Tool zielt darauf ab, die Analyse zu beschleunigen, die Bearbeitungszeiten zu verkürzen und die Kosten für die Patienten zu senken.
Darüber hinaus wird GeneDx Ergebnisse eines RNA-Sequenzierungsprogramms zur Aufklärung von Varianten unklarer Signifikanz (VUS) vorstellen und Kooperationen mit PacBio, GUARDIAN und Seqfirst präsentieren. Die Forschungspräsentationen umfassen Studien zu HiFi-Sequenzierungsanwendungen, erweitertem Neugeborenenscreening und den Bedürfnissen von Eltern während der pädiatrischen Ganzgenomsequenzierung.
- Development of AI-powered gene ranker to improve analysis efficiency and reduce costs
- Presentation of RNA sequencing program findings from over 100,000 patient cohort
- Strategic collaborations with PacBio, GUARDIAN, and Seqfirst to advance genomic research
- None.
Presentations to highlight how GeneDx is leveraging AI to drive both better patient care and scale
GeneDx earned one of the limited spots available for an industry-specific platform presentation on its AI-powered gene ranker embedded in its interpretation platform to enhance the speed and efficiency of clinical analysis. Through the combination of GeneDx’s industry leading proprietary dataset, publicly available data, and the power of AI, Multiscore prioritizes genes with positive findings in exome and genome sequences by ranking them based on alignment with a patient’s clinical presentation. GeneDx’s AI-powered gene ranker accelerates analysis, reducing turnaround times and costs for patients and ultimately increasing access to care.
- Multiscore, a Gene Ranker Powered by Artificial Intelligence and Real-World Clinical Data, Shows High Sensitivity in 10,000 Exomes and Genomes will be presented by Vinnie Ustach, PhD (GeneDx) on Thursday, March 20, 2025 at 12:00 pm PT in Meeting Room: Petree Hall D
Featured as a Top 20 Poster, GeneDx will also present findings from an RNA sequencing program used to aid in variant of uncertain significance (VUS) resolution for patients that received exome-based testing for rare disease.
- Clinical Impact of RNA Sequencing on VUS Resolution in a Diverse Rare Disease Cohort of Over 100,000 Patients will be presented by Melanie Napier, MSc, MSc, CGC, CCGC (GeneDx) on Thursday, March 20 at 12:00 pm PT in the Exhibit Hall Learning Lounge and Friday, March 21 at 10:30 am PT at West Exhibit Hall A
“GeneDx’s research, collaborations and AI-powered innovations being presented at ACMG reflect our commitment to advancing the utilization of exome and genome testing to improve patient care,” said Dr. Paul Kruszka, MD, FACMG, Chief Medical Officer at GeneDx. “By investing in industry-changing research and harnessing cutting-edge technology, we are enhancing the speed, accuracy, and impact of genetic insights, ultimately enabling a precise diagnosis, faster and better outcomes for patients, and also driving cost efficiency.”
GeneDx leverages its industry-leading dataset, exome and genome across numerous studies to advance clinical care for pediatric patients and showcase strong evidence to expand utilization. Through strategic collaborations with PacBio, GUARDIAN, and Seqfirst, GeneDx champions research to drive forward exome and genome sequencing as the standard of care in diverse clinical settings.
GeneDx collaborated on the following posters and presentations:
- Resolution of large complex VNTRs with HiFi sequencing: applications in LPA Kringle IV-type 2 repeat and D4Z4 repeat will be presented by Xiao Chen, PhD on Thursday, March 20 at 12:00 pm PT in Meeting Room: Petree Hall D
- GUARDIAN Expanded Newborn Screening Study: Early Experiences will be presented by Brenna Boyd, MS, CGC on Friday, March 21 at 1:30 pm PT in Meeting Room: 501 ABC
- Parental needs during pediatric whole genome sequencing for developmental disorders: an interview study will be presented by Priyanka Murali, MS, CGC on Thursday, March 20 at 10:30 am PT in West Exhibit Hall A
About GeneDx:
At GeneDx (Nasdaq: WGS), we believe that everyone deserves personalized, targeted medical care—and that it all begins with a genetic diagnosis. Fueled by one of the world’s largest, rare disease data sets, our industry-leading exome and genome tests translate complex genomic data into clinical answers that unlock personalized health plans, accelerate drug discovery, and improve health system efficiencies. For more information, please visit genedx.com and connect with us on LinkedIn, Facebook, and Instagram.
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Investor Relations Contact:
Investors@GeneDx.com
Media Contact:
Press@GeneDx.com
Source: GeneDx
FAQ
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