First Effort to Integrate PacBio HiFi Whole Genome Sequencing in Newborn Screening Launches in Thailand
Rhea-AI Summary
PacBio (PACB) and Chulalongkorn University have announced a strategic collaboration to implement PacBio HiFi whole genome sequencing (WGS) in a newborn screening research program in Thailand. This marks the first initiative in Asia Pacific to use PacBio's HiFi sequencing technology at population scale.
The collaboration aims to evaluate how comprehensive genomic data can support earlier identification of rare and treatable conditions in newborns. PacBio's HiFi WGS technology offers advantages over traditional screening methods by generating highly accurate genomic data, including regions typically inaccessible to short-read methods, while capturing epigenomic information in parallel.
This initiative positions Thailand as a regional leader in population-scale genomics and demonstrates Asia Pacific's growing influence in global genomics. The project aims to establish a scalable research model for genomic newborn screening, potentially serving as a blueprint for other countries seeking to modernize their screening programs.
Positive
- First-mover advantage in implementing population-scale HiFi sequencing in Asia Pacific
- Strategic expansion into the newborn screening market, opening new revenue opportunities
- Partnership with a leading national institution strengthens market presence in Thailand
- Technology demonstrates superior capabilities over traditional screening methods
Negative
- Research program status implies revenue impact may not be immediate
- Implementation costs and scalability challenges in a developing market
Insights
PacBio's HiFi sequencing deployment in Thailand's newborn screening program showcases superior variant detection capabilities, potentially revolutionizing early genetic diagnosis.
This landmark collaboration represents the first application of HiFi whole genome sequencing in population-scale newborn screening across Asia Pacific. The technological significance cannot be overstated. Unlike traditional targeted screening panels that detect only a limited subset of conditions, PacBio's long-read HiFi technology captures comprehensive genomic information with remarkable accuracy.
The key technical advantage lies in HiFi sequencing's unique ability to resolve structural variants and repeat expansions that conventional short-read methods frequently miss. These complex genetic elements are implicated in numerous rare pediatric disorders that currently go undetected at birth. Additionally, HiFi sequencing simultaneously captures epigenomic information without requiring separate assays, providing multi-dimensional insights from a single test.
For newborn screening specifically, this approach represents a paradigm shift from the targeted biochemical and molecular tests that have remained largely unchanged for decades. By generating complete genomic profiles at birth, clinicians gain unprecedented diagnostic capabilities for early intervention in treatable genetic conditions.
The implementation in Thailand will serve as a critical validation of HiFi sequencing in a healthcare context, testing both its analytical performance and practical feasibility in a population health setting. Success here could establish a new global standard for comprehensive genetic evaluation at birth, fundamentally transforming our approach to early-life disease detection.
PacBio strategically enters Asia's clinical genomics market through Thai newborn screening program, establishing foothold for regional expansion and recurring revenue.
This collaboration represents a significant strategic milestone for PacBio, marking their entry into the high-potential Asia Pacific clinical genomics market. By partnering with Thailand's Chulalongkorn University on newborn screening research, PacBio establishes a showcase implementation that could influence adoption decisions throughout the region.
The newborn screening application is particularly valuable from a business perspective. Unlike episodic genetic testing, population screening programs provide sustainable, recurring demand as each new birth cohort requires evaluation. While initially framed as research, successful demonstration could drive transition into standard clinical practice, creating predictable long-term revenue streams through both instrument placements and consumable sales.
This initiative aligns perfectly with PacBio's broader strategic pivot toward clinical applications under CEO Christian Henry's leadership. After historically focusing on research markets, the company has systematically expanded into healthcare applications where long-read sequencing offers distinct advantages.
From a competitive standpoint, this implementation differentiates PacBio's technology in the sequencing marketplace by highlighting applications where HiFi sequencing's comprehensive variant detection capabilities address limitations of dominant short-read platforms. By positioning their technology as enabling previously impossible insights in newborn health, PacBio strengthens their value proposition in the
Though financial terms remain undisclosed, this partnership represents meaningful progress in expanding PacBio's addressable market and validating their technology in healthcare settings with population-scale potential.
Collaboration leverages HiFi’s unique ability to reveal hidden variants, bringing a new level of precision to early life genetic screening
MENLO PARK, Calif. and BANGKOK, May 05, 2025 (GLOBE NEWSWIRE) -- PacBio (Nasdaq: PACB) a leading provider of high-quality, highly accurate sequencing platforms, and Chulalongkorn University, a national leader in genomic and translational research, today announced a strategic collaboration to implement PacBio HiFi whole genome sequencing (WGS) as part of a newborn screening research program. This marks the first initiative in Asia Pacific to explore the use of PacBio’s HiFi sequencing technology at population scale - an effort designed to evaluate how comprehensive genomic data can support earlier, more accurate identification of rare and treatable conditions in newborns. The collaboration highlights Thailand’s growing leadership in precision medicine and offers a potential model for countries seeking to modernize newborn screening with genome-wide approaches.
“Our shared goal is to establish a robust and scalable research model for genomic newborn screening that helps uncover the genetic basis of undiagnosed conditions from birth,” said Professor Vorasuk Shotelersuk from the Center of Excellence for Medical Genomics, Chulalongkorn University, Thailand. “We are excited to work with PacBio to bring this vision closer to reality for families in Thailand.”
Traditional newborn screening programs have relied on targeted panels that detect a limited subset of conditions based on specific molecular pathologies. Recent advances in genome sequencing now make it possible to take a broader, more comprehensive approach, starting at birth. PacBio’s HiFi WGS leverages long-read technology to generate highly accurate, complete genomic data, including regions that are typically inaccessible to short-read methods. In addition to resolving structural variants and repeat expansions, HiFi WGS captures epigenomic information in parallel, giving researchers a multidimensional view of the genome. This level of detail opens the door to identifying a wider range of genetic variants, many of which are implicated in early-onset and rare diseases that previously went undetected.
“Every child deserves the best possible start to life, and that begins with giving families and clinicians access to comprehensive genomic information from the very beginning,” said Christian Henry, President and Chief Executive Officer of PacBio. “This collaboration demonstrates how advanced sequencing technologies like HiFi can enable broader insights at birth. It’s deeply aligned with our mission at PacBio to make high-quality genomic information accessible where it’s needed most, and we’re proud to support Chulalongkorn University and Thailand as they lead the way in laying the foundation for a new model of care.”
This collaboration positions Thailand as a regional leader in population-scale genomics and reflects Asia Pacific’s expanding influence in the global genomics landscape. With an established foundation in public health and translational research, Thailand is uniquely prepared to explore how whole genome sequencing can enhance national healthcare strategies, beginning with newborn screening. By applying PacBio’s HiFi long-read sequencing to this early-stage initiative, researchers gain a more comprehensive view of the genome, enabling the detection of variants that are often missed by traditional methods. The ability to capture a wider spectrum of genetic risk at birth sets a new benchmark for the potential of early disease detection, while also contributing to broader goals in carrier screening and public health planning. For Thailand, this project strengthens its role in advancing precision medicine and lays critical groundwork for future data-sharing frameworks and cross-border research collaborations that can inform more equitable and effective genomic healthcare worldwide.
About PacBio
PacBio (NASDAQ: PACB) is a premier life science technology company that designs, develops, and manufactures 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 www.pacb.com and follow @PacBio.
PacBio products are provided for Research Use Only. Not for use in diagnostic procedures.
About Faculty of Medicine, Chulalongkorn University in Thailand
Chulalongkorn University is the oldest national university in the Kingdom of Thailand. The university has been active in international research activities and is committed to creating knowledge and innovation to transform Thai society into a creative and sustainable future. As part of the university’s mission is to contribute the knowledge gained to the sustainable development of the country and society, the Faculty of Medicine is also actively involved in sharing knowledge with society through collaboration between industry, government, and academia.
Website：https://www.md.chula.ac.th/en/
Facebook：https://www.facebook.com/MDCU.chulalongkornuniversity
Linkedin：https://www.linkedin.com/school/chulalongkornuniversity
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 uses, advantages, quality or performance of, the benefits or expected benefits of using, PacBio products or technologies, including in connection with Thailand’s efforts to integrate PacBio products into newborn screening; establishing a research model that may uncover the genetic basis of undiagnosed conditions, improve outcomes, ease uncertainty or offer answers earlier, and other future events. You should not place undue reliance on forward-looking statements because they are subject to assumptions, risks, and uncertainties that could cause actual outcomes and results to differ materially from currently anticipated results. These risks include, but are not limited to, risks inherent in developing and commercializing new technologies; 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; third-party claims alleging infringement of patents and proprietary rights or seeking to invalidate PacBio's patents or proprietary rights; and other risks associated with general macroeconomic conditions and geopolitical instability. 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, including PacBio’s preliminary unaudited financial information and PacBio’s financial guidance, 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.
Contacts (PacBio)
Investors:
Todd Friedman
ir@pacificbiosciences.com
Media:
pr@pacificbiosciences.com
Contacts (Chulalongkorn University)
Media:
prmdcu@gmail.com
FAQ
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