Consortium Aims to Share Best Practices and Increase our Understanding of Genetic Disease

MENLO PARK, Calif., Nov. 2, 2023 /PRNewswire/ -- PacBio (NASDAQ: PACB), a leading developer of high-quality, highly accurate sequencing solutions, today announced the creation of the HiFi Solves consortium. This global consortium brings together researchers from 15 leading genomics research institutions across 11 countries to study the value HiFi-based human genome sequencing may have in clinical research applications and to further our understanding of genetic diseases. These institutions will collaborate to develop and share best practices on data generated from PacBio Revio sequencing systems, with the goal of leveraging the comprehensiveness and completeness of HiFi genomes in human genetics research applications.

PacBio logo (PRNewsfoto/Pacific Biosciences of California, Inc.)

"The launch of Revio has enabled researchers to scale HiFi long-read sequencing at unprecedented levels," said Christian Henry, President and Chief Executive Officer of PacBio. "By creating this consortium, we aim to accelerate global adoption of HiFi sequencing in human genomics through the sharing of best practices so that we may potentially offer families an end to their diagnostic odyssey."

"Through our ongoing rare disease-focused collaboration with PacBio, we've seen tremendous success in the use of HiFi native long-read sequencing to explore the underlying causes of rare genetic diseases that are challenging to identify using other genomic methods," said Wendy Van Zelst-Stams, Professor of Care for Rare Diseases and new head of the human genetics department at Radboud University Medical Center. "We look forward to collaborating with our global colleagues to share best practices in the use of this technology for rare disease research as we believe it offers the potential to provide tremendous benefit to families in search of answers."

PacBio HiFi long-read sequencing has the potential to become a single front-line assay for researchers interrogating rare disease cohorts because of its ability to call and phase all classes of variants accurately, unlike other technologies that require multiple assays. Through the HiFi Solves consortium, researchers will study the efficacy of HiFi sequencing in interrogating the many possible genetic mechanisms that underlie rare diseases.

Members of the HiFi Solves consortium will provide an overview of its goals and activities at the American Society of Human Genetics Annual Meeting in Washington D.C., and will share recent results, particularly around exploring potentially clinically relevant genes that lie in areas of high sequence homology or otherwise complex regions of the human genome.

Participating institutions of the HiFi Solves consortium are:

  • Bioscientia Institute for Medical Diagnostics (GmbH) (Germany)
  • Broad Institute of MIT and Harvard (U.S.A.)
  • Children's Hospital of Eastern Ontario (Canada)
  • Children's Mercy Kansas City (U.S.A)
  • Chulalongkorn University (Thailand)
  • Hospital for Sick Children (SickKids) - (Canada)
  • i-Lac (Japan)
  • Karolinska University Hospital and Karolinska Institutet (Sweden)
  • KK Women's and Children's Hospital (Singapore)
  • The Max Planck Institute for Molecular Genetics (Germany)
  • Medizinische Universität Innsbruck (Austria)
  • National Center for Child Health and Development (Japan)
  • Radboud University Medical Center (Netherlands)
  • SciLifeLab (Sweden)
  • University of Leuven (Belgium)

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 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 and follow @PacBio.

PacBio products are provided for Research Use Only. Not for use in diagnostic procedures.

Forward-Looking Statements
This press release contains "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 HiFi Solves consortium; uses, advantages, quality or performance of, or benefits or expected benefits of using, PacBio products or technologies; collaboration and sharing of best practices by researchers; acceleration of global adoption of HiFi sequencing in human genomics; potential benefits to families in search of answers; potential to become a front-line assay for researchers; the ability to leverage PacBio HiFi data for disease research and provide complete solutions and end-to-end workflows; the acceleration of discoveries, interpretations and solutions; the impact of PacBio sequencing on human health; and other forward-looking statements. Reported results and orders for any instrument system should not be considered an indication of future performance. 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, challenges inherent in developing, manufacturing, launching, marketing and selling new products; rapidly changing technologies and extensive competition in genomic sequencing; unanticipated increases in costs or expenses; interruptions or delays in the supply of components or materials for, or manufacturing of, PacBio products and products under development; potential product performance and quality issues and potential delays in development timelines; the possible loss of key suppliers; 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.


Todd Friedman                                   

Lizelda Lopez

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