GeneDx Enhances the Power of its Interpretation Platform with Artificial Intelligence (AI) Powered Gene Ranker to Enable Faster and More Efficient Clinical Analysis
GeneDx (WGS) has unveiled Multiscore, an advanced AI-powered decision support tool integrated into their genetic interpretation platform. The tool aims to revolutionize genetic analysis by improving diagnostic efficiency and streamlining workflows.
Multiscore leverages GeneDx's proprietary dataset of 750,000 clinical exome and genome sequences and over six million phenotypic datapoints, combined with publicly available data. The AI tool prioritizes genes in exome and genome sequences by ranking them based on patient clinical presentation, enabling faster and more accurate identification of genetic conditions.
The technology will be presented at the American College of Medical Genetics and Genomics (ACMG) Annual Meeting. By incorporating phenotypic similarities into gene ranking criteria, the tool helps identify pathogenic diagnoses even in complex cases where symptoms may not match textbook descriptions, ultimately reducing manual review time and accelerating result delivery.
GeneDx (WGS) ha presentato Multiscore, un avanzato strumento di supporto decisionale basato sull'IA integrato nella loro piattaforma di interpretazione genetica. Lo strumento mira a rivoluzionare l'analisi genetica migliorando l'efficienza diagnostica e semplificando i flussi di lavoro.
Multiscore sfrutta il dataset proprietario di GeneDx composto da 750.000 sequenze di esomi e genomi clinici e oltre sei milioni di punti dati fenotipici, combinati con dati disponibili pubblicamente. Lo strumento di IA prioritizza i geni nelle sequenze di esomi e genomi classificandoli in base alla presentazione clinica del paziente, consentendo un'identificazione più rapida e accurata delle condizioni genetiche.
La tecnologia sarà presentata al Meeting Annuale del American College of Medical Genetics and Genomics (ACMG). Incorporando somiglianze fenotipiche nei criteri di classificazione dei geni, lo strumento aiuta a identificare diagnosi patologiche anche in casi complessi in cui i sintomi potrebbero non corrispondere alle descrizioni standard, riducendo infine il tempo di revisione manuale e accelerando la consegna dei risultati.
GeneDx (WGS) ha presentado Multiscore, una avanzada herramienta de soporte a la decisión impulsada por IA integrada en su plataforma de interpretación genética. La herramienta tiene como objetivo revolucionar el análisis genético mejorando la eficiencia diagnóstica y optimizando los flujos de trabajo.
Multiscore aprovecha el conjunto de datos propietario de GeneDx que incluye 750,000 secuencias de exomas y genomas clínicos y más de seis millones de puntos de datos fenotípicos, combinados con datos disponibles públicamente. La herramienta de IA prioriza los genes en las secuencias de exomas y genomas clasificándolos según la presentación clínica del paciente, lo que permite una identificación más rápida y precisa de las condiciones genéticas.
La tecnología se presentará en el Congreso Anual del American College of Medical Genetics and Genomics (ACMG). Al incorporar similitudes fenotípicas en los criterios de clasificación de genes, la herramienta ayuda a identificar diagnósticos patológicos incluso en casos complejos donde los síntomas pueden no coincidir con las descripciones estándar, reduciendo así el tiempo de revisión manual y acelerando la entrega de resultados.
GeneDx (WGS)는 유전자 해석 플랫폼에 통합된 AI 기반 의사 결정 지원 도구인 Multiscore를 공개했습니다. 이 도구는 진단 효율성을 개선하고 작업 흐름을 간소화하여 유전자 분석을 혁신하는 것을 목표로 합니다.
Multiscore는 750,000개의 임상 엑솜 및 게놈 시퀀스와 600만 개 이상의 표현형 데이터 포인트로 구성된 GeneDx의 독점 데이터 세트를 활용하며, 공개 데이터와 결합됩니다. 이 AI 도구는 환자의 임상 발표에 따라 엑솜 및 게놈 시퀀스에서 유전자를 우선 순위로 지정하여 유전적 상태를 더 빠르고 정확하게 식별할 수 있도록 합니다.
이 기술은 미국 의학 유전학 및 유전체학 학회(ACMG) 연례 회의에서 발표될 예정입니다. 유전자 순위 기준에 표현형 유사성을 포함함으로써, 이 도구는 증상이 교과서 설명과 일치하지 않는 복잡한 경우에서도 병리학적 진단을 식별하는 데 도움을 주어, 궁극적으로 수동 검토 시간을 줄이고 결과 전달을 가속화합니다.
GeneDx (WGS) a dévoilé Multiscore, un outil d'aide à la décision alimenté par l'IA intégré dans leur plateforme d'interprétation génétique. Cet outil vise à révolutionner l'analyse génétique en améliorant l'efficacité diagnostique et en rationalisant les flux de travail.
Multiscore s'appuie sur l'ensemble de données propriétaire de GeneDx comprenant 750 000 séquences d'exomes et de génomes cliniques et plus de six millions de points de données phénotypiques, combinés avec des données disponibles publiquement. L'outil d'IA priorise les gènes dans les séquences d'exomes et de génomes en les classant selon la présentation clinique du patient, permettant ainsi une identification plus rapide et plus précise des conditions génétiques.
La technologie sera présentée lors de la Réunion Annuelle de l'American College of Medical Genetics and Genomics (ACMG). En intégrant des similitudes phénotypiques dans les critères de classement des gènes, l'outil aide à identifier des diagnostics pathologiques même dans des cas complexes où les symptômes peuvent ne pas correspondre aux descriptions classiques, réduisant ainsi le temps de révision manuelle et accélérant la livraison des résultats.
GeneDx (WGS) hat Multiscore vorgestellt, ein fortschrittliches KI-gestütztes Entscheidungshilfetool, das in ihre genetische Interpretationsplattform integriert ist. Das Tool zielt darauf ab, die genetische Analyse zu revolutionieren, indem es die diagnostische Effizienz verbessert und Arbeitsabläufe optimiert.
Multiscore nutzt den proprietären Datensatz von GeneDx mit 750.000 klinischen Exom- und Genomsequenzen sowie über sechs Millionen phänotypischen Datenpunkten, kombiniert mit öffentlich verfügbaren Daten. Das KI-Tool priorisiert Gene in Exom- und Genomsequenzen, indem es sie basierend auf der klinischen Präsentation des Patienten einstuft, was eine schnellere und genauere Identifizierung genetischer Erkrankungen ermöglicht.
Die Technologie wird auf dem Jahrestreffen des American College of Medical Genetics and Genomics (ACMG) vorgestellt. Durch die Einbeziehung phänotypischer Ähnlichkeiten in die Kriterien zur Geneinordnung hilft das Tool, pathologische Diagnosen selbst in komplexen Fällen zu identifizieren, in denen die Symptome möglicherweise nicht den Lehrbuchbeschreibungen entsprechen, wodurch letztendlich die manuelle Überprüfungszeit verkürzt und die Ergebnisslieferung beschleunigt wird.
- Implementation of AI technology to improve operational efficiency and diagnostic accuracy
- Large proprietary database of 750,000 clinical sequences and 6M phenotypic datapoints
- Potential reduction in turnaround time for genetic test results
- Enhanced capability to identify complex genetic conditions
- None.
Insights
GeneDx's introduction of the AI-powered Multiscore tool represents an operational efficiency play that could strengthen the company's competitive positioning in the genomic testing market. By leveraging their substantial proprietary dataset of 750,000 clinical exome and genome sequences and over 6 million phenotypic datapoints, the company is aiming to reduce manual review time and accelerate diagnosis turnaround times.
From a business perspective, this technology implementation could potentially improve unit economics through two primary mechanisms: (1) reducing labor costs per test through workflow automation, and (2) enabling higher testing volumes with existing personnel. These efficiency gains, if realized, would directly impact operating margins.
While the announcement lacks specific performance metrics or quantification of expected financial benefits, it signals the company's strategic focus on using AI to extract more value from their proprietary database. This database represents a significant competitive moat that could become increasingly valuable if effectively monetized through AI-enhanced diagnostic capabilities.
The genetic testing market continues to experience pricing pressures, making operational efficiency particularly important for maintaining profitability. GeneDx's investment in AI capabilities reflects an appropriate strategic response to these market dynamics, though investors should monitor whether these technological enhancements translate to improved financial performance in future quarters.
GeneDx's Multiscore tool to be showcased at the American College of Medical Genetics and Genomics (ACMG) Annual Meeting
Through the combination of GeneDx’s industry leading proprietary dataset, publicly available data, and the power of AI, Multiscore prioritizes genes in exome and genome sequences by ranking them based on alignment with a patient’s clinical presentation. Incorporating phenotypic similarities into gene ranking criteria, GeneDx can better serve patients whose symptoms may not fit textbook descriptions and enables the identification of pathogenic or likely pathogenic diagnoses even in complex cases. This approach enables faster, more accurate identification of genetic conditions, providing a scalable solution for clinical interpretation embedded directly within GeneDx’s platform, and reducing the time required for manual review by analysts, ultimately shortening the overall turnaround time for delivering results.
“GeneDx recognizes the impact of AI to unlock even more potential and opportunity from our genomic data, and its ability to drive efficiencies in workflows, ultimately accelerating the time to diagnosis and enabling genetic diagnoses at scale. Multiscore is just one of the many ways we're leveraging the power of AI in our workflows,” said Bryan Dechairo, PhD, Chief Operating Officer at GeneDx. “By equipping our clinical geneticists with AI-driven solutions during analysis, we're not only improving operational performance and scale, we're also enriching our database even more rapidly. With each test we gain a deeper understanding of disease-gene relationships which also serve as a powerful tool to accelerate the path to treatment for patients.”
By leveraging the accumulated insights within GeneDx’s database of 750,000 clinical exome and genome sequences and over six million phenotypic datapoints, Multiscore offers a continuously updated knowledge base and ensures the most current gene-disease associations are incorporated into the interpretation process regularly.
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:
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Source: GeneDx
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