Pacific Biosciences of California, Inc.

New test utilizes technology based on PacBio's PureTarget sequencing method to uncover genetic causes of disease

BOSTON, July 29, 2025 /PRNewswire/ -- Athena Diagnostics, the specialty neurology business of Quest Diagnostics (NYSE: DGX), a leading provider of diagnostic information services, today announced a new laboratory test service intended to provide insights into genetic causes of ataxia, a group of progressive, degenerative neurological disorders that affect movement or coordination.

The new service is a laboratory developed test that identifies sequences of DNA that repeat many times across a long stretch of the genome. Conventional sequencing technologies are adept at elucidating short DNA sequences but may fail to discern complex or large repeating sequences. Genetic causes of ataxia include expansions of repeating sequences in various genes, which go undetected in many conventional genetic sequencing panels. The new service will be used to confirm initial screening results delivered using polymerase chain reaction (PCR) testing. Healthcare providers may now order the test from Athena Diagnostics.

Under a collaboration agreement with PacBio (NASDAQ: PACB), Quest developed and validated the new lab developed test using specialized technology based on PacBio's PureTarget method. Athena used the technology to develop and validate its ataxia test in Athena's advanced laboratory in Marlborough, Mass. Athena is also exploring options to develop and deploy a test based on PacBio technology to improve carrier screening.

In a study available as a preprint, a PureTarget gene panel was found to identify a specific repeating gene pattern associated with Spinocerebellar ataxia type 10 that may be associated with age of disease onset, information that may help guide care decisions.

"Extensive iterative testing is sometimes needed to identify the genes implicated in neurological disease like ataxia," said Mark Gardner, Senior Vice President of Oncology, Genomics and R&D at Quest Diagnostics. "Interrogating long DNA strands may identify patterns that other methods may miss, improving confirmatory testing quality."

"Athena Diagnostics is a well-regarded leader in neurological and rare disease testing, and we are excited about the potential of this new Athena Diagnostics test, empowered with our expertise in long-read sequencing, so more families get the answers they need," said Christian Henry, President and Chief Executive Officer of PacBio.

Ataxia is a degenerative disease of the nervous system, wherein affected individuals may experience lack of coordination using muscles in their fingers and hands, arms, legs, walking, speaking or moving their eyes, resulting from dysfunction of brain areas. Recent studies have found the prevalence of ataxia in children to be 26 per 100,000, with 10 per 100,000 being caused by genetics.

About Athena Diagnostics

Athena Diagnostics, a business of Quest Diagnostics, is a leader in diagnostic testing for neurological diseases and offers innovative tests for Alzheimer's disease, muscular dystrophy and other neuromuscular and developmental disorders. Athena is dedicated to providing neurologists and other physicians and specialists with insights that can improve patient health. For more information, visit AthenaDiagnostics.com.

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, and oncology. 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.

View original content to download multimedia:https://www.prnewswire.com/news-releases/athena-diagnostics-improves-ataxia-movement-disorder-testing-with-novel-long-read-gene-sequencing-302515308.html

SOURCE Quest Diagnostics

Organization's 6,000-genome effort will power global ALS research through detailed long-read sequencing data made freely available to scientists worldwide

NEW YORK and MENLO PARK, Calif., June 2, 2025 /PRNewswire/ -- Target ALS, a nonprofit breaking down barriers to amyotrophic lateral sclerosis (ALS) research, has partnered with PacBio (Nasdaq: PACB), a leading provider of high-quality, highly accurate long read sequencing platforms, to launch the largest global whole genome sequencing initiative for ALS to date. By applying PacBio's HiFi sequencing to more than 6,000 genomes from people with ALS and healthy controls, the project aims to detect structural variants, repeat expansions, and other hard-to-detect genetic features that may underlie the disease. As part of the ALS Global Research Initiative (AGRI), all data will be openly shared via the Target ALS Data Engine, removing barriers to access and enabling researchers around the world to uncover disease mechanisms and explore new pathways to treatment.

The Importance of Long-Read Sequencing for ALS

ALS is a progressive neurodegenerative disease that affects nerve cells in the brain and spinal cord, gradually robbing individuals of muscle control and mobility. While genetic factors are known to play a role in some forms of ALS, much about the disease's origins and progression remains unknown. PacBio HiFi sequencing offers the resolution needed to detect these elements with greater confidence, particularly in non-coding regions of the genome, where regulatory disruptions may play a role in motor neuron degeneration.

"90% of ALS patients do not know the cause of their disease. We are combining two powerful approaches to discover new genetic causes of ALS - the first is to go out into communities to generate data from as many people with ALS as we can find, particularly those who would not be able to come into clinic to participate in research, and the second is to use a method of sequencing that allows us to 'see' as much of the genome as is possible," says Dr. Amy Easton, Ph.D., Senior Director of Scientific Programs at Target ALS.  

Traditional short-read sequencing has helped identify known ALS-associated mutations, but its limited read length makes it difficult to resolve complex regions of the genome where novel variants may lie. Long-read sequencing, like PacBio's HiFi technology, captures DNA fragments ranging from 1,000 to 20,000 base pairs - compared to the 50 to 300 base pairs typical of short-read methods. This allows researchers to more accurately assemble genomes and view the full structure of genes and their regulatory elements. This comprehensive view is essential for ALS, where repeat expansions, cryptic splicing, and regulatory elements may all contribute to disease but often go undetected with short-read tools.

In addition to providing access to longer swaths of DNA and accurate variant calls, HiFi data can be used to generate high-quality transcript isoform information and methylation profiles from each sample allowing researchers to examine how genetic variants may influence RNA expression and epigenetic changes in ALS. This integrated view has the potential to reveal novel disease mechanisms that are invisible to short-read sequencing approaches.

"We're honored to support Target ALS in addressing one of the most urgent challenges in neurodegenerative disease," said David Miller, Vice President of Marketing at PacBio. "ALS has a complex genetic landscape marked by elements that are often missed with traditional sequencing. HiFi sequencing offers the length and accuracy needed to uncover those hidden regions, helping researchers make new connections between genetic variation and disease progression. By making these data broadly available, this project has the potential to accelerate discoveries that could lead to better diagnostics, new therapeutic targets, and ultimately, hope for people living with ALS."

Driving Breakthroughs in ALS Research

Through this collaboration, Target ALS is adding invaluable long-read sequencing data to their Data Engine, which already holds the most comprehensive collection of multi-omic datasets for ALS research. As with all Target ALS resources, access to the Data Engine is open to scientists worldwide at no cost. Whole genomes from this initiative are already available to be mined and analyzed. Together, Target ALS and PacBio continue to enrich this resource, performing short-read, long-read, and RNA sequencing on samples from AGRI, which includes a Global Natural History Study and Community Pop-up Clinics, and Target ALS' Postmortem Tissue Core.

"For most researchers, the expense of long-read sequencing is prohibitive and the ability to obtain human samples is limited. Target ALS sees it as our role to continue to lower the barriers and fill the gaps, enabling rapid discovery of new diagnostic biomarkers and therapeutic targets," says Dr. Manish Raisinghani, M.B.B.S., Ph.D., Chief Executive Officer at Target ALS. 

To start mining the data, visit the Target ALS Data Engine.

About Target ALS

Target ALS is a medical research foundation breaking down barriers to Amyotrophic Lateral Sclerosis (ALS) research to find effective treatments. Since 2013, Target ALS has revolutionized ALS research through its Innovation Ecosystem. By democratizing research through an unbiased review process, providing access to cutting-edge research tools, facilitating cross-disciplinary collaboration, and galvanizing industry involvement, Target ALS accelerates the most promising ideas in scientific research into drug development programs. Driven by impatient optimism, deliberate disruption, and radical collaboration, Target ALS aims to transform ALS into a manageable disease, building a world where Everyone Lives. 

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.

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 Target ALS and its efforts to perform long-read sequencing of genomes from ALS patients; making the ALS genetic data available to scientists world-wide free of charge; intentions to examine how genetic variants includes expression and epigenetic changes in ALS; 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 identifying complicated genetic drivers of disease, including with respect to ALS; developing and commercializing new technologies; rapidly changing technologies and extensive competition in genomic sequencing; unanticipated increases in tariffs, 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 (Target ALS)

Stephanie Ishoo

Manager, Research Communications and Marketing, Target ALS

Stephanie.Ishoo@targetals.org

Contacts (PacBio)

Investors:

Todd Friedman

ir@pacificbiosciences.com

Media:

pr@pacificbiosciences.com

View original content to download multimedia:https://www.prnewswire.com/news-releases/target-als-chooses-pacbio-hifi-sequencing-to-advance-als-research-with-largest-global-genomic-study-to-date-302470691.html

SOURCE Target ALS