PacBio and Radboud UMC Announce Remarkable Study Results Using HiFi Long Read Sequencing to Help Advance Rare Disease Diagnostics
PacBio (NASDAQ: PACB) and Radboud University Medical Center announced significant results from a study published in the American Journal of Human Genetics, demonstrating the effectiveness of PacBio's HiFi long-read sequencing technology in rare disease diagnostics. The study analyzed 100 challenging patient samples, achieving a 93% identification rate of pathogenic variants previously difficult to detect using short-read methods.
Key operational metrics include nearly 1,000 samples processed as of January 10, 2025, with 862 fully analyzed since August 2024. The collaboration has implemented automated library preparation for 24 samples per run, with plans to scale to 96 samples. Radboudumc has expanded its Revio instrument fleet to support 5,000 genomes using SPRQ chemistry, with first-tier diagnostic rollout targeted for summer 2025.
PacBio (NASDAQ: PACB) e il Radboud University Medical Center hanno annunciato risultati significativi da uno studio pubblicato sull'American Journal of Human Genetics, che dimostra l'efficacia della tecnologia di sequenziamento a lungo read HiFi di PacBio nella diagnosi delle malattie rare. Lo studio ha analizzato 100 campioni clinici complessi, raggiungendo un 93% di tasso di identificazione delle varianti patogene precedentemente difficili da rilevare utilizzando i metodi a breve read.
I principali indicatori operativi includono quasi 1.000 campioni processati al 10 gennaio 2025, con 862 completamente analizzati da agosto 2024. La collaborazione ha implementato una preparazione automatizzata delle librerie per 24 campioni per ogni ciclo, con piani per espandere a 96 campioni. Radboudumc ha ampliato la flotta di strumenti Revio per supportare 5.000 genomi utilizzando la chimica SPRQ, con il lancio del primo livello diagnostico previsto per l'estate del 2025.
PacBio (NASDAQ: PACB) y el Centro Médico de la Universidad Radboud anunciaron resultados significativos de un estudio publicado en el American Journal of Human Genetics, que demuestra la efectividad de la tecnología de secuenciación de lectura larga HiFi de PacBio en el diagnóstico de enfermedades raras. El estudio analizó 100 muestras de pacientes desafiantes, logrando una tasa de identificación del 93% de variantes patógenas que antes eran difíciles de detectar utilizando métodos de lectura corta.
Los principales indicadores operativos incluyen casi 1,000 muestras procesadas hasta el 10 de enero de 2025, con 862 completamente analizadas desde agosto de 2024. La colaboración ha implementado preparación automatizada de bibliotecas para 24 muestras por corrida, con planes de escalar a 96 muestras. Radboudumc ha ampliado su flota de instrumentos Revio para apoyar 5,000 genomas utilizando química SPRQ, con un lanzamiento diagnóstico de primer nivel previsto para el verano de 2025.
PacBio (NASDAQ: PACB)와 라드바우드 대학교 의료센터(Radboud University Medical Center)는 미국 인류 유전학 저널(American Journal of Human Genetics)에 발표된 연구에서 PacBio의 HiFi 장기 염기서열 분석 기술이 희귀 질병 진단에 효과적임을 입증하는 중요한 결과를 발표했습니다. 이 연구는 100개의 어려운 환자 샘플을 분석했으며, 단기 염기서열 분석 방법으로 찾기 어려운 병원성 변이의 93% 식별률을 달성했습니다.
주요 운영 지표로는 2025년 1월 10일 기준으로 거의 1,000개의 샘플이 처리되었으며, 2024년 8월 이후 862개 샘플이 완전히 분석되었습니다. 이 협력관계는 매 회차당 24개의 샘플에 대해 자동화된 라이브러리 준비를 구현했으며, 96개 샘플로 확장할 계획입니다. Radboudumc는 SPRQ 화학을 사용하는 5,000개의 유전체를 지원하기 위해 Revio 기기 풀을 확장했으며, 2025년 여름에 1단계 진단을 론칭할 예정입니다.
PacBio (NASDAQ: PACB) et le Centre Médical de l'Université de Radboud ont annoncé des résultats significatifs d'une étude publiée dans l'American Journal of Human Genetics, démontrant l'efficacité de la technologie de séquençage à lecture longue HiFi de PacBio dans le diagnostic des maladies rares. L'étude a analysé 100 échantillons de patients difficiles, atteignant un taux d'identification de 93% des variants pathogènes auparavant difficiles à détecter avec des méthodes à lecture courte.
Les principales métriques opérationnelles incluent près de 1 000 échantillons traités au 10 janvier 2025, avec 862 entièrement analysés depuis août 2024. La collaboration a mis en œuvre une préparation de bibliothèque automatisée pour 24 échantillons par course, avec des plans pour s'étendre à 96 échantillons. Radboudumc a élargi sa flotte d'instruments Revio pour soutenir 5 000 génomes utilisant la chimie SPRQ, avec le déploiement de diagnostics de premier niveau prévu pour l'été 2025.
PacBio (NASDAQ: PACB) und das Radboud University Medical Center haben bedeutende Ergebnisse aus einer Studie verkündet, die im American Journal of Human Genetics veröffentlicht wurde und die Wirksamkeit von PacBios HiFi-Langlesesequenzierungstechnologie in der Diagnostik seltener Erkrankungen demonstriert. Die Studie analysierte 100 herausfordernde Patientenproben und erreichte eine Identifikationsrate von 93% für pathogene Varianten, die zuvor mit Kurzlesemethoden schwer zu erkennen waren.
Wichtige betriebliche Kennzahlen umfassen fast 1.000 verarbeitete Proben zum 10. Januar 2025, wobei seit August 2024 862 Proben vollständig analysiert wurden. Die Zusammenarbeit hat eine automatisierte Bibliotheksvorbereitung für 24 Proben pro Durchlauf implementiert, mit Plänen zur Skalierung auf 96 Proben. Radboudumc hat seine Flotte an Revio-Instrumenten erweitert, um 5.000 Genome mit SPRQ-Chemie zu unterstützen, wobei die Einführung grundlegender Diagnosen für den Sommer 2025 geplant ist.
- 93% success rate in identifying pathogenic variants in challenging rare disease cases
- Processing efficiency demonstrated with 981 samples sequenced and 862 analyzed since August 2024
- Secured order for 5,000 diagnostic genomes with expanded Revio instrument fleet
- Automated library preparation scaling from 24 to 96 samples per run
- None.
Insights
The publication in the American Journal of Human Genetics showcasing a 93% detection rate of pathogenic variants using PacBio's HiFi technology represents a pivotal advancement in rare disease diagnostics. The study's scale of 981 processed samples and commitment to 5,000 diagnostic genomes demonstrates significant commercial validation.
The operational improvements, particularly the automation enabling 24 samples per run with planned scaling to 96 samples, indicate substantial throughput optimization. This efficiency enhancement directly impacts cost-effectiveness, a important factor for clinical adoption. The SPRQ chemistry implementation and expanded Revio instrument fleet suggest strong market penetration potential.
For investors, this validated clinical utility could drive increased adoption in the $2.1 billion rare disease diagnostic market. The partnership with Radboudumc, a respected research institution, provides credibility and potential for expanded market share in the clinical genomics space.
The ability to consolidate multiple diagnostic tests into a single comprehensive approach using HiFi sequencing represents a paradigm shift in clinical diagnostics. The technology's superior detection of complex structural variants and DNA methylation abnormalities addresses critical limitations of current short-read methods.
The planned first-tier diagnostic rollout in summer 2025 positions PacBio to capture significant market share in the clinical genomics sector. The streamlined workflows and graphical user interface developments indicate a strategic focus on clinical usability - a important factor for widespread adoption.
Think of this like upgrading from multiple specialized tools to a single, more powerful Swiss Army knife - it's not just about consolidation, but about improving accuracy and efficiency simultaneously. This advancement could significantly reduce diagnostic odysseys for rare disease patients while potentially lowering overall healthcare costs.
MENLO PARK, Calif., Jan. 14, 2025 (GLOBE NEWSWIRE) -- PacBio (NASDAQ: PACB), a leading provider of highly accurate long-read sequencing solutions, announced a significant publication from Radboud University Medical Center (Radboudumc) and its research partners in the American Journal of Human Genetics. The study demonstrates the impact of PacBio’s HiFi long-read sequencing technology in identifying genetic causes of rare diseases, illustrating the feasibility of potentially replacing multiple diagnostic tests with a single, more comprehensive approach.
The study, led by Christian Gilissen and Lisenka Vissers of Radboudumc, used PacBio’s Revio platform and HiFi long reads to analyze 100 challenging patient samples where the genetic causes of rare diseases had been difficult to identify in previous investigations using short reads combined with various supplementary tests. HiFi sequencing results from these samples identified an impressive
Metrics Demonstrating Momentum Towards Clinical Genomics Implementation
In support of this study and a broader transition to HiFi long-reads, PacBio and Radboudumc are accelerating efforts to study bringing this approach into clinical practice. The collaboration is advancing rapidly, with recent milestones demonstrating measurable progress:
- Nearly 1,000 samples processed: As of January 10, 2025, 981 samples have been sequenced, with 862 fully analyzed since August 2024.
- Operational improvements: Automated library preparation now enables 24 samples per run, with plans to scale up to 96 samples per run for even greater throughput.
- Streamlined workflows: Advanced protocols and a graphical user interface are being optimized to support future diagnostics for all variant types, with the first-tier diagnostic rollout targeted for summer 2025.
- Commitment to 5,000 diagnostic genomes: In the fourth quarter of 2024, Radboudumc expanded its Revio instrument fleet to support an order for 5,000 genomes on SPRQ chemistry.
Christian Henry, President and CEO of PacBio, remarked, “The diagnostic capabilities demonstrated in this study represent a watershed moment for the potential of genomic medicine. PacBio is honored to partner with Radboudumc and other leading centers by delivering SPRQ chemistry for 5,000 genomes as we work together to study ways to simplify diagnostics, increase accuracy, and improve patient outcomes. These metrics reflect our shared commitment to advancing clinical genomics with scalable, practical solutions.”
Rare Disease Diagnostics Take a Major Step Forward
Dr. Alexander Hoischen, Professor of Genomic Technologies at Radboudumc, emphasizes the significance of these advancements: “For patients and families affected by rare diseases, HiFi sequencing offers a much-needed pathway to answers. This study not only demonstrates the diagnostic power of long reads but also lays the groundwork for their clinical adoption. The scale and efficiency metrics from our collaboration show the potential feasibility of making these advanced diagnostics available to more patients worldwide.”
A Defining Moment for Rare Disease Genomics
This study demonstrates the advantages of HiFi long reads in potentially consolidating multiple diagnostic tests into a single, highly accurate, and comprehensive solution. Researchers anticipate that continued advancements and decreasing technology costs will accelerate its potential adoption as the preferred method for rare disease diagnostics.
The study, HiFi long-read genomes for difficult-to-detect, clinically relevant variants, is now available in the American Journal of Human Genetics.
About PacBio:
PacBio (NASDAQ: PACB) is a premier life science technology company that designs, develops, and manufactures advanced sequencing solutions to help scientists and clinical researchers resolve genetically complex problems. Our products and technologies stem from two highly differentiated core technologies focused on accuracy, quality and completeness which include our HiFi long-read sequencing and our SBB® short-read sequencing technologies. Our products address solutions across a broad set of research applications including human germline sequencing, plant and animal sciences, infectious disease and microbiology, oncology, and other emerging applications. For more information, please visit www.pacb.com and follow @PacBio.
PacBio products are provided for Research Use Only. Not for use in diagnostic procedures.
About Radboud UMC:
Radboud university medical center is a university medical center for patient care, research and education, located in Nijmegen. Radboud university medical center strives to be at the forefront of shaping the health and healthcare of the future. This is reflected in our mission: ‘to have a significant impact on health and healthcare’. It demands that we innovate and reinvigorate through collaboration within our networks and with the focus on the individual person. We mainly concentrate on prevention, meaningful and prudent healthcare, sustainability, artificial intelligence and data-driven systems, the molecular mechanisms of diseases and new treatments, and training the professionals of tomorrow.
Forward Looking Statements
This press release may contain “forward-looking statements” within the meaning of Section 21E of the Securities Exchange Act of 1934, as amended, and the U.S. Private Securities Litigation Reform Act of 1995. All statements other than statements of historical fact are forward-looking statements, including statements relating to the uses, coverage, advantages, and benefits or expected benefits of using, PacBio products or technologies, including the use of Revio and HiFi sequencing technology in connection with the identification of genetic causes of rare diseases and its related potential use in, and PacBio’s commitment to advancing, clinical genomics; anticipation that continued advancements and decreasing technology costs will accelerate the potential adoption of HiFi long reads as the preferred method for rare disease diagnostics; and other future events. You should not place undue reliance on forward-looking statements because they are subject to assumptions, risks, and uncertainties and could cause actual outcomes and results to differ materially from currently anticipated results, including, the difficulty of generating discoveries in the study of rare diseases and the potential use of PacBio’s long-read and HiFi technology in a clinical context; potential performance, quality and regulatory issues; and third-party claims alleging infringement of patents and proprietary rights or seeking to invalidate PacBio's patents or proprietary rights. Additional factors that could materially affect actual results can be found in PacBio's most recent filings with the Securities and Exchange Commission, including PacBio's most recent reports on Forms 8-K, 10-K, and 10-Q, and include those listed under the caption "Risk Factors." These forward-looking statements are based on current expectations and speak only as of the date hereof; except as required by law, PacBio disclaims any obligation to revise or update these forward-looking statements to reflect events or circumstances in the future, even if new information becomes available.
Contacts:
PacBio
For investors: Todd Friedman, IR@pacificbiosciences.com
For media: PR@pacificbiosciences.com
Radboudumc
For investors:
Alexander Hoischen
alexander.hoischen@radboudumc.nl
Lisenka Vissers
lisenka.vissers@radboudumc.nl
Christian Gilissen
Christian.Gilissen@radboudumc.nl
For media:
Pieter Lomans
Pieter.Lomans@radboudumc.nl
FAQ
What success rate did PacBio's HiFi sequencing achieve in identifying rare disease variants?
How many diagnostic genomes has Radboudumc ordered from PacBio (PACB)?
What is the current sample processing capacity of PacBio's automated library preparation?
When is PacBio (PACB) planning to roll out first-tier diagnostics?
How many samples has Radboudumc processed using PacBio's technology as of January 2025?
