Labcorp and the Children’s Hospital of Philadelphia are partnering to accelerate pediatric diagnostic innovation and national access, signaling new growth opportunities for clinical laboratories in high-complexity, specialty testing markets.
This effort could potentially reshape how clinical laboratories access and deliver advanced testing for younger patient populations.
For clinical laboratory professionals, the partnership signals a growing emphasis on
scaling niche, high-complexity diagnostics through national infrastructure. By combining CHOP’s pediatric research and clinical expertise with Labcorp’s commercialization capabilities and broad testing network, the organizations plan to build a joint innovation pipeline designed to move new assays from discovery to nationwide availability more efficiently.
Labcorp–CHOP Collaboration Targets Pediatric Testing Gap
This model addresses a longstanding gap in the diagnostics market. Pediatric-specific tests, which account for developmental and physiological differences, have historically lagged behind adult-focused diagnostics. The collaboration targets key growth areas including oncology, metabolic disease, autoimmune disorders, and rare diseases—segments that increasingly require advanced molecular and genetic testing capabilities.
“Our shared aim to improve children’s health makes this collaboration so powerful,” Stephen R. Master, division chief and director of metabolic and advanced diagnostics at CHOP, said in a news release. “By pairing CHOP’s pediatric leadership with Labcorp’s nationwide reach, we seek to deliver important new and specialized tests to children and their families more efficiently and at greater scale.” (Photo credit: CHOP)
From a business perspective, the agreement reflects a broader industry trend toward partnerships that bridge academic innovation with commercial scale. For clinical laboratories, it underscores the opportunity and competitive pressure to expand pediatric test menus, invest in specialized capabilities, and align with research institutions to accelerate time to market.
The agreement also illustrates Labcorp’s continuing effort to expand its presence in the US diagnostics market. Labcorp and chief competitor Quest Diagnostics have been on buying sprees in recent years to grab laboratory outreach businesses from health systems. The CHOP partnership represents a different business avenue for Labcorp to head into.
As demand grows for precision diagnostics in younger populations, collaborations like this may define the next phase of growth in the clinical lab industry, particularly in high-value, specialty testing segments.
A long-term study shows increasing rates of therapy-related AML as cancer survival improves, pushing clinical laboratories to expand genomic testing, enhance surveillance, and prepare for more complex secondary malignancies.
A new population-based study published in CANCER, a journal of the American Cancer Society, signals a growing diagnostic and surveillance challenge that clinical laboratories should take note of. Rates of therapy-related acute myeloid leukemia (tAML), a secondary blood cancer linked to prior chemotherapy and radiation exposure, are rising.
Researchers analyzing data from the Osaka Cancer Registry found that tAML incidence increased steadily between 1990 and 2020. Among nearly 10,000 AML cases, 6.5% were therapy-related, with incidence rising from 0.13 to 0.36 per 100,000 people. The proportion of tAML within total AML cases nearly doubled over the study period, reflecting a shifting disease burden tied to improved cancer survival.
“The study provides an important step towards better understanding how the nature of tAML is changing with the increasing number of cancer survivors,” said lead author Kenji Kishimoto, MD, PhD, of the Osaka International Cancer Institute.
For clinical laboratories, the findings underscore the downstream impact of modern oncology treatments. As more patients survive primary cancers, labs are increasingly likely to encounter complex secondary malignancies requiring advanced hematologic testing, molecular profiling, and longitudinal monitoring. tAML, in particular, is associated with prior DNA damage from cytotoxic therapies, often presenting with aggressive clinical features and distinct genetic signatures.
The study also highlights changing patterns in primary cancers preceding tAML. While prior blood cancers remained the most common precursor, cases following breast cancer treatment rose notably over time, suggesting evolving risks tied to treatment regimens and survivorship trends. Colorectal and gastric cancers were also represented, though gastric cancer–associated cases declined.
For lab professionals, this trend reinforces the need to adapt testing strategies, expand genomic capabilities, and collaborate closely with oncology teams as therapy-related malignancies become a more visible component of routine diagnostic workflows.
This article was created with the assistance of Generative AI and has undergone editorial review before publishing.
Johns Hopkins researchers show that measuring DNA methylation variability can improve early cancer detection accuracy and strengthen liquid biopsy performance across diverse patient populations.
Researchers at Johns Hopkins Kimmel Cancer Center are advancing a new approach to liquid biopsy that could improve early cancer detection by focusing on variability in DNA methylation patterns—rather than absolute levels—offering a potentially more reliable biomarker across diverse patient populations.
Dark Daily’s sibling publication Today’s Clinical Labreported that the liquid biopsy market is expected to increase by approximately 20% between 2022 and 2032, noting early cancer detection as a driver of the increase.
The method introduces a novel metric called the Epigenetic Instability Index (EII), designed to measure random variation, or “stochasticity,” in DNA methylation. In a proof-of-concept study published in Clinical Cancer Research, the approach demonstrated strong performance in distinguishing patients with early-stage cancers from healthy individuals.
“This is the first study where we are trying to really implement measuring that variation, or stochasticity, into a diagnostic tool,” said lead author Hariharan Easwaran, PhD. “We immediately found that measuring DNA methylation variation performs better than just measuring DNA methylation by itself.”
Model Targets Methylation Variability to Improve Multi-Cancer Detection
Traditional methylation-based liquid biopsies typically rely on detecting fixed changes at specific genomic sites. However, those tests are often developed using narrow patient cohorts and can struggle to generalize across broader populations. By contrast, the EII approach aims to capture a more universal biological signal tied to early tumor development.
To build the model, researchers analyzed more than 2,000 publicly available DNA methylation samples and identified 269 genomic regions (CpG islands) that capture the majority of methylation variability across cancer types.
“We identified specific genomic regions that tend to be the most variable in DNA methylation marks during cancer,” said first author Sara-Jayne Thursby, a postdoctoral researcher in Easwaran’s lab. “In cell-free DNA in the blood, that variability shouldn’t be high, but if it is, it is indicative of a developing cancerous phenotype.”
Using these regions, the team trained a machine learning model that demonstrated high accuracy across multiple cancers. In lung adenocarcinoma, the test detected stage 1A disease with 81% sensitivity at 95% specificity. For early-stage breast cancer, sensitivity reached approximately 68% at the same specificity level. The tool also showed potential utility in colon, pancreatic, brain, and prostate cancers.
Researchers say the findings support the idea that epigenetic instability may be an early hallmark of cancer progression.
“We hypothesize that early-stage tumors and precancerous lesions that exhibit high degrees of methylation variation… may be more resistant to intrinsic cancer-protective mechanisms and progress more rapidly,” said co-lead author Thomas Pisanic, PhD.
Looking ahead, the team plans to further validate the EII in larger clinical studies and position it as a complementary tool alongside existing screening methods. Easwaran noted that the test could serve as a “secondary triaging measure,” helping clinicians determine whether follow-up procedures—such as biopsies—are necessary after inconclusive or false-positive screening results.
For clinical laboratories, the approach signals a growing shift toward more nuanced, data-driven biomarkers that may improve early detection while reducing unnecessary procedures.
This article was created with the assistance of Generative AI and has undergone editorial review before publishing.
UW Medicine and Seattle Children’s launch long-read sequencing research to uncover genetic factors, setting new standards for pediatric genomic testing.
The study represents a critical step in both research and clinical laboratory practice. Applying long-read sequencing as a first-tier assay can streamline workflows, particularly when working with challenging samples such as post-mortem tissue or dried blood spots. Laboratories involved will need to combine advanced sequencing with robust bioinformatics pipelines, accurate variant interpretation, and integration of parental genomes to provide clinically relevant results.
The study, led by Danny E. Miller, MD, PhD, assistant professor of pediatrics and laboratory medicine and pathology at the University of Washington, and Alexandra Keefe, MD, PhD, assistant professor of pediatrics at UW Medicine, will sequence 200 family trios—a child and their parents—aiming to uncover genetic factors that may contribute to these sudden, unexplained deaths.
PacBio’s Revio system with SPRQ-Nx chemistry will be used to generate highly accurate long-read genomes, allowing researchers to detect complex structural variants and tandem repeats that traditional sequencing may miss. By including parental data, the team hopes to distinguish inherited variants from spontaneous mutations, increasing the likelihood of actionable findings for families.
Long-Read Sequencing Advances SUDC Investigations
“Selecting HiFi sequencing as our first-line whole-genome assay allows us to search for answers with the accuracy and breadth these families deserve,” said Miller. “By starting with long reads and incorporating parental data, we can resolve difficult variants, phase them accurately, and provide guidance relevant to SUDC.”
The SUDC Foundation currently assists over 1,000 families in more than 20 countries. The organization emphasizes the importance of comprehensive investigations for sudden child deaths, including genetic testing, DNA banking, and family screening when appropriate.
“Families affected by SUDC face unimaginable loss,” said Julia Burgess, president of the SUDC Foundation. “Funding this project reflects our commitment to advancing research that brings clarity, guidance, and hope to grieving families nationwide.”
Beyond supporting families, the research could establish a model for how cutting-edge genomic testing is incorporated into clinical investigations of sudden childhood deaths. The team plans to implement a tiered genomic approach for cases with suspected genetic causes, beginning with trio-based exome and low-pass whole-genome sequencing, followed by reflexive long-read sequencing when necessary.
“This project has the potential not only to provide answers to families but also to transform standards for genetic investigation in pediatric sudden death,” said Keefe. “It highlights the essential role laboratories play in turning advanced genomic technologies into actionable clinical knowledge.” (Photo credit: UW Medicine)
The SUDC Foundation expects the study, funded at $328,133 over four years, to generate data that supports broader adoption of long-read sequencing in pediatric genomics and enhance understanding of the genetic underpinnings of SUDC.
For clinical laboratory professionals, this initiative underscores the growing expectation that advanced genomic technologies—particularly long-read whole-genome sequencing and trio analysis—will play a larger role in investigating unexplained pediatric deaths. As these tools move toward first-line use, labs must be prepared to support complex variant detection, robust bioinformatics interpretation, and collaboration with clinicians and medical examiners, positioning the laboratory at the center of efforts to deliver clearer answers for families.
Roche’s SBX technology just helped Broad Clinical Labs set a GUINNESS WORLD RECORD for the fastest DNA sequencing ever.
According to a recent press release, for laboratory leaders tracking the next wave of genomic innovation, Roche’s latest advancements in sequencing technology could signal a major shift in research capabilities. At the 2025 American Society of Human Genetics (ASHG) Annual Meeting, the company unveiled new data and collaborations around its Sequencing by Expansion (SBX) platform—a system designed to deliver faster, longer, and more flexible reads.
This technology’s growing adoption by research institutions suggests it could soon reshape how labs approach complex multiomic analysis, precision oncology, and translational research.
World Record Broken
A highlight of the 2025 ASHG Annual Meeting was the GUINNESS WORLD RECORD achievement by Broad Clinical Labs, which used SBX to complete the fastest human genome sequencing to date, processing a sample from DNA extraction to final variant call file in under four hours. This record, achieved in collaboration with Roche Sequencing Solutions and Boston Children’s Hospital, surpassed the previous mark of just over five hours, demonstrating SBX’s ability to deliver rapid, high-quality results.
Mark Kokoris, inventor of the SBX chemistry and head of SBX Technology at Roche commented, “Breaking the GUINNESS WORLD RECORD is a remarkable achievement.” (Photo credit: Roche)
Roche also announced a new collaboration with the Wellcome Sanger Institute, which will conduct multi-project evaluations of SBX across applications such as Bulk RNA sequencing, where longer reads and higher throughput could uncover complex features like spliced isoforms. This partnership adds to a growing network of collaborations that include the Hartwig Medical Foundation, Genentech, The University of Tokyo, and the Broad Institute, reflecting widespread scientific interest in applying SBX across diverse research domains.
Further innovations include progress in methylation mapping using SBX-Duplex, which reads both DNA strands simultaneously, paired with TET-assisted pyridine borane sequencing (TAPS) from Watchmaker Genomics. This workflow enhances accuracy in detecting DNA methylation and holds promise for applications such as liquid biopsy-based cancer detection and novel biomarker discovery.
In another collaboration, researchers at the University of Tokyo leveraged SBX’s speed and flexibility for spatial sequencing of lung cancer tissue, achieving roughly 15 billion reads in just one hour. Roche also presented a target enrichment method using the SBX-Simplex workflow, which employs Unique Molecular Identifiers (UMIs) to generate highly accurate reads from minimal input, an approach that could be particularly valuable in oncology research requiring deep sequencing coverage.
For diagnostics and research laboratories, Roche’s progress with SBX represents more than a technical milestone, it points to new operational opportunities. Potentially faster turnaround times, deeper insights across multiple molecular layers, and improved workflows could help labs expand their research portfolios and strengthen partnerships in precision medicine. As sequencing continues to evolve from discovery to real-world application, forward-thinking lab leaders will want to keep an eye on how SBX’s scalability and speed might redefine their own genomic testing strategies.
This article was created with the assistance of Generative AI and has undergone editorial review before publishing.
A UCLA microbiology lab used whole-genome sequencing to trace a carbapenem-resistant Pseudomonas outbreak to a single ICU sink, revealing how biofilm and plumbing can silently harbor superbugs.
A routine culture from an ICU patient at UCLA Health sparked an investigation that ultimately uncovered a silent, domestic outbreak of a highly resistant strain of Pseudomonas aeruginosa. The discovery was led by the Molecular Microbiology and Pathogen Genomics Laboratory and highlights the critical role clinical laboratories play in outbreak detection, antimicrobial resistance surveillance, and environmental tracking.
The initial isolate appeared typical: P. aeruginosa, a common hospital-associated pathogen. But further analysis revealed something more troubling, the presence of NDM-1 (New Delhi metallo-β-lactamase), an enzyme that breaks down carbapenems and other powerful beta-lactam antibiotics, rendering them ineffective.
“This was the first time we’d ever seen an NDM-1-producing Pseudomonas strain in our hospital—and in a patient with no international travel,” said Shangxin Yang, PhD, director of UCLA Health’s Molecular Microbiology and Pathogen Genomics Laboratory.
Shangxin Yang, PhD, director of UCLA Health’s Molecular Microbiology and Pathogen Genomics Laboratory noted, “While NDM-1 is prevalent in Asia, Europe and the Middle East, it remains rare in the United States. That’s when we knew this wasn’t imported. This was something domestic—and very concerning.” (Photo credit: UCLA)
Sporadic Cases, Elusive Source
Over the next 18 months, seven additional patients were identified with the same rare resistance pattern. The cases were sporadic—spread across time and units—and did not follow conventional outbreak patterns, complicating source identification.
In collaboration with UCLA Health’s infection prevention team, the lab launched a detailed investigation. Routine epidemiologic methods failed to identify commonalities between the cases. Shared equipment, staffing patterns, and care protocols were ruled out. With limited leads, the microbiology team turned to whole-genome sequencing (WGS).
Whole-Genome Sequencing Connects the Dots
WGS became the turning point. By sequencing all eight patient isolates and comparing them to environmental samples, Yang’s lab determined that seven of the eight clinical isolates and two environmental strains shared an almost identical genomic profile. Only one isolate, from a patient previously treated in Iran, was genetically distinct.
“Whole-genome sequencing gave us the clarity we needed,” said Yang. “It allowed us to move from hypothesis to high-resolution confirmation—pinpointing the genetic relatedness of these organisms with certainty.”
The team had uncovered a clonal outbreak of NDM-1-producing P. aeruginosa, likely stemming from a single environmental reservoir.
Unexpected Reservoir: An ICU Sink
During a third round of environmental testing, the lab isolated the same NDM-1-producing strain from a contaminated sink drain and P-trap in one ICU room. Notably, two of the eight patients had been admitted to that room more than a year apart.
The persistence of the organism was attributed to biofilm formation in the sink plumbing. Pseudomonas is known for forming robust biofilms that adhere to moist surfaces and resist standard disinfection methods.
“This wasn’t just about surface contamination,” said Yang. “This was a deeply embedded reservoir that conventional cleaning protocols couldn’t touch.”
Lab-Driven Response and Mitigation
Once the lab identified the environmental source, targeted interventions were put in place:
Weekly disinfection of ICU sinks using Virasept, a biofilm-effective agent
Plumbing replacement, including P-trap components known to harbor persistent biofilms
Engineering modifications to faucet angles to reduce splash-back and droplet spread
Expanded environmental surveillance to monitor other sinks for colonization
The lab continued to monitor the situation post-intervention, and no further cases of NDM-1-producing P. aeruginosa have been identified since the changes were implemented.
Lessons Learned
This case reinforces the value of whole-genome sequencing in resolving complex outbreaks, linking patient isolates to an environmental source that traditional methods missed. It highlights the need to include plumbing and other biofilm-prone areas in environmental sampling. Most importantly, it shows how microbiology labs through genomic, phenotypic, and molecular tools can lead outbreak investigations, especially when paired with strong cross-department collaboration.
“This is a clear example of the power of the clinical lab when genomic tools and environmental surveillance are used strategically,” said Yang. “Without WGS, this would have remained an unsolved mystery.”
