Collaboration aims to showcase utility and cost-effectiveness of HiFi sequencing in clinical research settings, using Revio systems

MENLO PARK, Calif., June 14, 2023 /PRNewswire/ — PacBio (NASDAQ: PACB), a leader in the development of high-quality, highly accurate sequencing solutions, today announced a clinical research study with Radboud University Medical Center (Radboudumc) to explore the genetic causes of diseases rare and genetic. Along with the Radboud Department of Human Genetics which is one of the largest academic centers for human genetics in the Europe, PacBio aims to discover the genetic origins of rare and genetic diseases. The study will also explore the feasibility and cost-effectiveness of using PacBio’s HiFi sequencing technology as part of routine clinical use.

“We believe this study is designed to make significant breakthroughs in medical genetics and we look forward to the results,” he said. Christian Henry, President and CEO of PacBio. “Currently, the genetic underpinnings of 50% of rare diseases remain unresolved due to the lack of accuracy and depth of current testing workflows. We have joined forces with Radboudumc to better understand this critical gap using our powerful Revio sequencing systems to identify key variants at scale with extraordinary accuracy. This research not only has the potential to help revolutionize patient care for thousands of people each year, but we believe it will also deepen our understanding of the practical application of sequencing technology to long read in routine clinical use with Radboudumc aligns perfectly with their world-class research capabilities and we are excited to work together to make a real difference in providing answers for families.”

Radboudumc scientists are taking on the challenge of solving some of the most puzzling cases of undiagnosed rare diseases using PacBio’s HiFi long-read sequencing technology for whole genome sequencing (WGS). Despite having undergone all the standard methods of care, including short-reading sequencing, these people still need answers. Investigating the potential consolidation of standard molecular testing into a clinical workflow with PacBio HiFi WGS, the project aims to explore PacBio technology as a potential first-line test, which could pave the way for a more efficient and effective diagnostic process in the future . If successful, we hope to help our customers revolutionize current iterative testing workflows that are all too common in today’s practice.

“We believe the recent advances in productivity and cost brought about by the Revio sequencing system will allow Radboudumc to test thousands of samples by long-read WGS, all within a single site,” said Alexander Hoischen, associate professor of Genomic Technologies and Immuno-Genomics. “This will allow us to study the potential clinical utility and better understand the health economics of bringing highly accurate HiFi sequencing into a large-scale clinical setting at Radboudumc. With this technological advance, we will maintain our position as one of the world’s leading diagnostic centers more innovative, pushing the boundaries of what is possible in genomics.”

The completeness of the HiFi genomes has also been demonstrated in a pilot study for this collaboration that was just published in the journal Genome Medicine.

The study will be led by several distinguished Radboudumc researchers, including Lisenka Vissers, professor of translational genomics; Helger YntemaPhD, head of diagnostic divisions at Radboudumc; Arthur van den WijngaardPhD, Head of Diagnostics Division at Maastricht UMC+; Christian GilisseProfessor Genome Bioinformatics; Han BrunnerProfessor of Human Clinical Genetics, Head of Human Genetics Departments, Radboudumc and Maastricht UMC+.

Radboudumc is a member of the European Reference Network, which covers 24 European countries and supervises more than 100,000 patients with rare neuromuscular diseases in all member states of the European Union.

For more information on the benefits of HiFi sequencing in rare diseases, please visit:

To find out more about Radboudumc’s research teams, please visit:

About PacBio
PacBio (NASDAQ: PACB) is a leading life science technology company that designs, develops and manufactures advanced sequencing solutions to help scientists and clinical researchers solve genetically complex problems. Our products and technology under development are derived from two highly differentiated core technologies focused on accuracy, quality and completeness that include our existing HiFi long-read sequencing and our emerging SBB short-read sequencing technologies. Our products address solutions for a broad range of research applications, including human germline sequencing, plant and animal sciences, infectious disease and microbiology, oncology, and other emerging applications. For more information, visit and follow @PacBio.

PacBio products are provided for research use only. Not for use in diagnostic procedures.

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 US Private Securities Litigation Reform Act of 1995, including statements relating to studies to explore the potential use and health economics of using PacBio’s HiFi sequencing technology in the clinical setting. Readers are cautioned not to place undue reliance on these forward-looking statements, and such forward-looking statements are qualified in their entirety by reference to the following cautionary statements. All forward-looking statements speak only as of the date of this press release and are based on current expectations and involve a number of assumptions, risks and uncertainties that could cause actual results to differ materially from such forward-looking statements. Readers are strongly encouraged to read the full cautionary statements contained in PacBio’s filings with the Securities and Exchange Commission, including the risks disclosed in PacBio’s Forms 8-K, 10-K, and 10-Q. PacBio disclaims any obligation to update or revise any forward-looking statements.


Todd Friedmann
[email protected]

Lizelda Lopez
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SOURCE Pacific Biosciences by CaliforniaInc.

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