June 14, 2023

PacBio and Radboud University Medical Center Team Up for New Discoveries in Rare Disease Research

Collaboration Aims to Show 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 leading developer of high-quality, highly accurate sequencing solutions today announced a clinical research study with Radboud University Medical Center (Radboudumc) to explore genetic causes of rare and genetic diseases. Together with Radboud’s Department of Human Genetics, which is one of the largest academic centers for human genetics in Europe, PacBio aims to uncover 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 discoveries in the field of medical genetics, and we can’t wait to see the results," said Christian Henry, President and Chief Executive Officer of PacBio. "Currently, the genetic basis of 50 percent of rare diseases remain unsolved due to lack of accuracy and depth of current testing workflows. We have joined forces with Radboudumc to better understand this critical gap by 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 individuals each year, but we believe it will also deepen our understanding of the practical application of long-read sequencing technology in routine clinical use. Our collaboration with Radboudumc perfectly aligns with their world-class research capabilities, and we’re thrilled 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 standard-of-care methods, including short-read sequencing, these individuals still need answers. By studying the potential consolidation of standard molecular tests into a clinical workflow with PacBio HiFi WGS, the project aims to explore PacBio’s technology as a potential first-line assay, which could pave the way for a more efficient and effective diagnostic process in the future. If successful, we hope to help our customers in revolutionizing the current iterative testing workflows that are all too common in practice today.

"We believe the recent advances in throughput and cost brought by the Revio sequencing system will enable Radboudumc to test thousands of samples by long-read WGS all within a single center," said Alexander Hoischen, Associate Professor 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 in a clinical setting on a large scale at Radboudumc. With this advancement in technology, we will maintain our position as one of the world’s most innovative diagnostic centers, pushing the boundaries of what is possible in the field of genomics."

The comprehensiveness of HiFi genomes was also shown in a pilot study for this collaboration that was just published in the journal of Genome Medicine

The study will be conducted by numerous distinguished researchers at Radboudumc, including Lisenka Vissers, Professor Translational Genomics; Helger Yntema, PhD, head of diagnostic divisions in Radboudumc; Arthur van den Wijngaard, PhD, head of diagnostic division in Maastricht UMC+; Christian Gilissen, Professor Genome Bioinformatics; Han Brunner, Professor Human Clinical Genetics, head of Human Genetics Departments, Radboudumc and Maastricht UMC+.

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

To learn more about the benefits of HiFi sequencing in rare disease, visit:

To learn more about the Radboudumc research teams, visit:  

About PacBio
PacBio (NASDAQ: PACB) is a premier life science technology company that is designing, developing and manufacturing advanced sequencing solutions to help scientists and clinical researchers resolve genetically complex problems. Our products and technology under development stem from two highly differentiated core technologies focused on accuracy, quality and completeness which include our existing HiFi long read sequencing and our emerging 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 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 U.S. Private Securities Litigation Reform Act of 1995, including statements relating to the study to explore the potential use of, and health economics of using, PacBio’s HiFi sequencing technology in a clinical setting. Readers are cautioned not to place undue reliance on these forward-looking statements and any 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 the 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 set forth in PacBio’s Forms 8-K, 10-K, and 10-Q. PacBio disclaims any obligation to update or revise any forward-looking statements.


Todd Friedman                                   

Lizelda Lopez                        

SOURCE Pacific Biosciences of California, Inc.

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