PacBio announced that its Sequel II CNDx system has received Class III Medical Device Registration approval from China's National Medical Products Administration (NMPA), achieved through its partnership with Berry Genomics. This milestone represents the world's first regulatory clearance of a clinical-grade long-read sequencer, signaling a new era for precision medicine and high-accuracy genomic testing in China.
Breakthrough Technology for Complex Genetic Disorders
The Sequel II CNDx system addresses critical limitations in current genetic testing approaches. High-incidence genetic disorders such as thalassemia often involve complex variant types that are difficult or impossible to detect using short-read sequencing. With the newly approved system, clinicians can now access a complete picture of the genome in a single test, capturing single nucleotide variants (SNVs), insertions and deletions (indels), copy number variants (CNVs), structural variants (SVs), and repeat expansions with exceptional accuracy.
The system leverages PacBio's proprietary Single Molecule, Real-Time (SMRT®) technology, the only sequencing technology capable of delivering both high accuracy and long read lengths of 20 kb and greater. Unlike traditional approaches to thalassemia testing, HiFi sequencing allows each DNA molecule to be analyzed directly, discriminating highly homologous sequences while capturing multiple variant types and enabling phasing in a single run.
First-to-Market Clinical Implementation
Berry Genomics becomes the first company worldwide authorized to deploy a long-read sequencing platform in clinical settings. When paired with Berry's newly approved clinical thalassemia assay and software system, this approval delivers the first end-to-end long-read sequencing workflow for China's hospitals and diagnostic laboratories, optimized for carrier, prenatal, newborn, and rare disease testing.
"We are proud to bring PacBio's HiFi sequencing technology into clinical practice," said Dr. Aiping Mao, Vice Director of R&D at Berry Genomics. "This approval validates our shared vision of providing clinicians with the most accurate and comprehensive view of the genome."
Expanding Clinical Applications
Berry Genomics plans to expand this capability to additional clinical assays including congenital adrenal hyperplasia, fragile X syndrome, spinal muscular atrophy, Duchenne muscular dystrophy, and other complex single-gene disorders and panels. These assays also work on the newly launched benchtop Vega HiFi sequencer in clinical research applications.
The NMPA approval empowers laboratories to conduct in-country testing with reduced turnaround times and higher diagnostic yield compared to existing technology. This achievement reflects PacBio's continued commitment to collaborate with regional leaders to expand access to comprehensive, highly accurate sequencing.
Strategic Partnership and Market Impact
"PacBio's mission is to enable the promise of genomics to better human health," said Christian Henry, President and Chief Executive Officer of PacBio. "China's regulatory approval of Sequel II CNDx reflects not only the quality and performance of HiFi sequencing, but also its readiness to improve clinical outcomes on a global stage."
Berry Genomics, founded in May 2010, is a leading company in clinical genomics and life science in China with around 1,500 employees serving over 4,000 organizations and facilities worldwide. The company pioneered the first NGS-based genetic test, NIPT, in China in 2010 and has been listed on China's A-share market since 2017 under stock code 000710.
As demand for comprehensive genomic testing continues to grow, PacBio remains focused on expanding the clinical utility of HiFi sequencing through partnerships with local institutions and investments in AI-powered analysis, committed to lowering barriers to adoption and enabling clinicians worldwide to deliver more precise answers to patients and families.
