PacBio and Berry Genomics: Pioneering Long-Read Sequencing
Through a dedicated partnership with Berry Genomics, PacBio (NASDAQ: PACB) proudly announces that its Sequel II CNDx system has earned prestigious Class III Medical Device Registration from China's National Medical Products Administration (NMPA). This significant achievement marks the first regulatory approval for a clinical-grade long-read sequencer globally, heralding a pivotal moment for genomic testing and precision medicine in China.
Advantages of Long-Read Sequencing
Traditional short-read sequencing can struggle to identify complex genetic variants associated with high-incidence disorders like thalassemia. The groundbreaking Sequel II CNDx system allows healthcare professionals to gain an exhaustive view of the genome in a single test. It captures not only single nucleotide variants (SNVs) but also insertions and deletions (indels), copy number variants (CNVs), structural variants (SVs), and repeat expansions with unparalleled accuracy.
Enhanced Clinical Utility
With the recently approved clinical thalassemia assay and software from Berry Genomics, healthcare facilities can now implement the first comprehensive long-read sequencing workflow tailored for carrier, prenatal, newborn, and rare disease testing in China. This advancement promises to streamline genomic testing, making it more efficient and reliable for patients.
Leadership Insights and Future Prospects
Christian Henry, President and CEO of PacBio, articulates, “PacBio's mission is to bridge genomics and enhanced human health. The NMPA approval not only underscores the high performance of our HiFi sequencing technology but also affirms its capacity to elevate clinical outcomes internationally.”
Advancements in Sequencing Technology
The Sequel II CNDx system utilizes PacBio's proprietary Single Molecule, Real-Time (SMRT) technology, distinguished for its capacity to deliver both high accuracy and remarkable read lengths of 20 kb or more. This method enables direct analysis of individual DNA molecules, allowing precise differentiation among highly homologous sequences while efficiently capturing the full range of genetic variations.
Expanding Clinical Applications
Dr. Aiping Mao, Vice Director of R&D at Berry Genomics, expresses pride in the introduction of PacBio’s HiFi sequencing technology into clinical environments. “This approval confirms our shared commitment to equipping clinicians with a precise and thorough view of genomic information. We aim to broaden our offerings to include assays for congenital adrenal hyperplasia, fragile X syndrome, spinal muscular atrophy, and Duchenne muscular dystrophy, among others. These enhancements also function adeptly on our newly released benchtop Vega HiFi sequencer in clinical research.”
Creating a Robust Genomic Ecosystem
The NMPA's endorsement marks a significant stride for clinical genomics in China. With this milestone, Berry Genomics emerges as the first firm globally authorized to deploy a long-read sequencing platform within clinical settings. This empowers laboratories to conduct in-country testing that significantly reduces turnaround times and enhances diagnostic yield, outperforming existing methodologies.
Commitment to Genomic Innovation
PacBio remains dedicated to collaborating with regional leaders to broaden access to advanced sequencing capabilities. As the demand for comprehensive genomic testing surges, the company is focused on expanding the clinical utility of HiFi sequencing. Their efforts include partnerships with local institutions and investments in artificial intelligence-driven analytical tools, aimed at simplifying adoption barriers and enabling clinicians to provide patients and families with more accurate answers.
About Berry Genomics
Established in 2010, Berry Genomics stands at the forefront of clinical genomics and life science within China. The company is committed to advancing and commercializing genetic testing technologies for clinical applications, enhancing disease diagnosis throughout the human lifecycle. Their pioneering efforts led to China’s first NGS-based genetic test, NIPT.
About PacBio
PacBio (NASDAQ: PACB) is an esteemed life science technology company specializing in the design, development, and manufacturing of innovative sequencing solutions. Their portfolio includes advanced HiFi long-read sequencing, catering to various research applications spanning human genetics, plant and animal studies, infectious diseases, and oncology. For more insights on their offerings, visit www.pacb.com and follow @PacBio.
Frequently Asked Questions
What is the significance of PacBio's recent approval in China?
It is the first regulatory approval for a clinical-grade long-read sequencer globally, paving the way for advanced genomic testing.
How does the Sequel II CNDx system improve genetic testing?
It provides comprehensive genomic insights in one test, improving detection of complex variants.
What are the future plans for the technology?
Expansion to include assays for various genetic disorders and optimization for clinical settings is planned.
Who are the key players involved in this advancement?
PacBio and Berry Genomics are the primary collaborators driving this initiative.
What is the goal of PacBio's technology in healthcare?
To enhance human health through precise and efficient genomic solutions.
