Association for Molecular Pathology gathering also served up an advocacy push for RESULTS Act passage.
The Association for Molecular Pathology (AMP) 2025 Annual Meeting brought together just over 3,000 attendees, and an estimated 420 of them—an impressive 14% of total attendance—sought out information about cell-free DNA (cfDNA) testing.
Walking through the convention center in Boston that hosted AMP 2025 earlier this month, it was hard to ignore the standing-room only crowd that jammed into a session room to hear more about cfDNA diagnostics.
Cell-free DNA comprises fragments of DNA circulating in the blood, either from dying cells or infection. For clinical laboratory professionals and pathologists, cfDNA testing sits at the forefront of innovation for detecting cancer.
“We want to find these cancers early,” said presenter Trevor Pugh, PhD, a senior scientist at Princess Margaret Cancer Centre in Toronto and director of genomics at the Ontario Institute for Cancer Research.
At the AMP 2025 Annual Meeting in Boston, a session about cfDNA testing attracted more than 400 attendees. (Photo credit: Scott Wallask)
Machine Learning Will Play a Role in cfDNA Research
Part of the effort to advance cfDNA testing will involve datasets and mining, Pugh said. For example, one of his graduate students is working with him on training a cfDNA foundation model, which could lead to the ability to reconstruct the complete cancer genome.
“This is a machine learning person’s dream,” Pugh explained.
Foundation models are artificial intelligence (AI) networks trained on large datasets. The models allow for more specialized applications, such as those that can analyze digital diagnostic images.
AMP Pushes for Passage of the RESULTS Act
Elsewhere at the AMP 2025 conference, the association provided an update on delayed lab test reimbursement cuts under the Protecting Access to Medicare Act of 2014 (PAMA). Organizers also addressed the latest attempt to reform PAMA, the proposed Reforming and Enhancing Sustainable Updates to Laboratory Testing Services (RESULTS) Act.
As Dark Daily previously reported, momentum for the RESULTS Act is growing. Congress delayed upcoming PAMA cuts from Jan. 1, 2026, to Jan. 30, 2026, and there is hope during this brief extension that the RESULTS can get a vote or least greater support among lawmakers.
AMP endorses the RESULTS Act. “Congress needs to act,” said Jay Patel, MD, MBA, a member of AMP’s board of directors, during the PAMA update.
AMP has asked the Centers for Medicare and Medicaid Services to delay PAMA-related reporting requirements for labs until Congress can vote on the RESULTS Act, Patel added.
AI Featured in AMP 2025 Poster Sessions
More than 500 posters presentations occurred during AMP 2025. The space to house that many posters took up nearly half of the exhibition hall allotted to AMP.
The association noted several poster sessions that centered on how AI is improving diagnostic processes and accuracy within molecular pathology:
Researchers from The Hospital for Sick Children developed a web-based AI platform to integrate RNA sequencing into clinical workflows. The model achieved 93% diagnostic accuracy on subtypes covered by the platform.
Scientists at Soonchunhyang University created two AI models to classify samples. Both models showed strong accuracy.
Researchers at Wake Forest University School of Medicine used an AI-trained algorithm to analyze chromosomal abnormalities in GATA2 deficiency syndrome-related leukemia. The technology can quickly review hundreds of images, improving detection.
Members of our sibling brand, The Dark Report, can read more about the state of AI in clinical labs in our three-part series.
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.
Nearly all doctors call lab testing essential, but shortages and patient pressures are putting the system to the test.
Physicians across the United States certainly recognize the indispensable role of clinical laboratory testing in patient care, but growing workforce shortages, financial pressures, and rising patient demands are straining the system, according to a new survey conducted by YouGov on behalf of Siemens Healthineers.
The survey was released on July 29, during the Association for Diagnostics & Laboratory Medicine (ADLM) conference in Chicago.
The Dark Dailyrecently covered how findings at ADLM showed digital pathology trends are being slowly adopted in the US but how there’s a larger movement to connect patient care more directly.
The survey of 408 physicians, along with a parallel poll of 1,000 patients, reveals both how deeply doctors depend on laboratory professionals and how external pressures are reshaping testing decisions.
“Ninety-nine percent of physicians agree clinical lab testing is an integral part of the healthcare system,” the report states. Nearly all respondents said lab results are vital in informing treatment choices, with 98% noting they had modified a diagnosis or care plan based on test outcomes. As one physician put it, lab tests “help determine my actions” by providing crucial clarity in uncertain cases.
Doctors also reported that laboratory insights streamline the use of other healthcare resources. “Together, we help the health system and avoid unnecessary patient interventions,” one physician said, noting how test results often reduce the need for additional imaging or biopsies. In fact, 100% of surveyed physicians agreed that lab data helps them use other healthcare tools more effectively.
The Growing Strain on Labs
Despite reliance on labs, the collaboration doctors depend on is increasingly at risk. Clinical laboratory professionals manage more than 80,000 different tests across US facilities and generate roughly 14 billion results annually. Yet the workforce supporting this output is shrinking.
“When labs are short-staffed, it has a downstream effect on patient care,” 96% of doctors agreed. Another 94% expressed concern about healthcare staffing shortages more broadly. The problem is particularly acute in laboratories, where the number of training programs has dropped below 250 nationwide, leaving only about one lab scientist per 1,000 Americans.
Financial pressures are compounding the workforce issue. Though lab services account for only 4% of hospital costs, they are frequently targeted for cost-cutting. Consolidation and outsourcing have moved testing away from local facilities and toward centralized “dark labs,” largely operated by automation. While these high-tech labs maintain throughput, physicians caution that automation cannot replace collaboration. “In the age of automation, the human collaboration physicians depend on still counts,” the report warns.
Patient Demands Reshape Testing
Physicians are also feeling pressure from patients, many of whom arrive armed with information—or misinformation—from the internet. This rising “patient agency,” defined as the ability to influence healthcare decisions, is reshaping physician-patient interactions.
“Patient requests have forced me to weigh patient satisfaction against clinical judgment,” one physician admitted. Survey data shows 84% of patients expect their doctors to order requested tests, while 76% of physicians acknowledged ordering labs simply to satisfy those requests.
Zobair Younossi, MD, MPH, chairman, The Global NASH/MASH Council, said, “As a hepatologist dedicated to enhancing liver disease care, I believe that advances in laboratory testing are enabling us to ‘move the needle’ from liver biopsy toward blood-based biomarkers, allowing for earlier intervention through less invasive methods. For this shift to be successful, collaboration between clinicians and laboratory professionals is essential.” (Photo credit: MASH Alliance)
At the same time, 90% of patients said they trusted their doctor’s recommendation if the physician advised against unnecessary tests. Still, the survey underscores tension: while exploratory testing may placate patients, it can also create unnecessary costs and confusion. “Laboratory testing may be somewhat mitigating, though it can add unnecessary volume and expense for already overburdened clinical laboratories,” the report cautions.
The Hidden Role of Cost and Bureaucracy
Physicians also report external bureaucratic and financial pressures influencing test orders. About 32% said they had faced directives to reduce testing, while only 37% had visibility into the cost of lab tests they ordered. That number dropped further when asked about insurance coverage.
“Inadequate healthcare coverage may prevent patients from getting the appropriate level of laboratory testing,” the report notes. Among doctors who do know test costs, 60% admitted delaying orders due to expense concerns. From the patient side, 29% of respondents reported unpaid medical bills, with more than half saying their debt included lab testing fees.
Physicians are caught between avoiding unnecessary spending and protecting themselves from malpractice risk. Nearly 70% cited fear of being sued for misdiagnosis as a top concern, and 92% said they consider whether lab testing might reduce that risk. As one doctor put it, “Errors that negatively impact a patient’s care weigh heavy on my conscience and affect my mental health.”
A Call for Stronger Collaboration
Despite these pressures, doctors remain clear on their priorities. “Ninety-five percent agree that ordering tests to validate a patient’s care plan is their priority over conserving resources,” the report found. To achieve that, physicians want stronger ties with clinical lab professionals.
More than half—55%—said they heavily rely on lab experts to confirm which tests are most relevant, while 96% said they welcomed feedback from laboratory colleagues to improve ordering practices. “Physicians say clinical laboratory professionals are essential partners in delivering high-quality patient care, but a shrinking laboratory workforce may threaten the collaboration doctors rely on for clinical clarity,” the report concludes.
The Future of the Lab
Looking ahead, the report raises the question of whether the rise of automation-heavy dark labs will be a temporary solution or a permanent shift. For many doctors, the fear is losing the human expertise that helps interpret increasingly complex test menus.
“What physicians want are clinical partners and greater access to skilled professionals whose clinical insights help inform their patient care decisions,” the report states.
Without reinvestment in labs and workforce development, patients may face longer wait times, higher costs, and reduced trust in the system.
Ultimately, both doctors and patients recognize the centrality of the lab. The challenge now, as the survey shows, is ensuring those professionals are supported. “Recognizing laboratory professionals as collaborative clinical partners, and resourcing clinical labs as essential infrastructure rather than cost centers, is vital to safeguarding the important clinical support physicians rely on,” Siemens Healthineers concluded.
Danaher’s chief medical officer, Maximilian Schmid, says ‘infrastructure is there’ to push forward whole slide imaging.
Based on discussions at the recent Association for Diagnostics & Laboratory Medicine’s (ADLM) 2025 conference and observations from other sources, digital pathology trends continue to show sluggish adoption by clinical laboratories and anatomic pathology practices in the US. However, proponents of whole slide imaging say now is a prime opportunity to integrate the technology with a patient-centric care approach.
At least 65 vendors at the ADLM 2025 exhibitor hall indicated that their products touched whole slide imaging or digital pathology, showing this area is a hot focus for sellers.
Based on its customers, Leica has one of the largest installation bases of digital pathology scanners in the world. From that perspective, the technology is available, yet obstacles remain.
“The infrastructure is there,” said Maximilian Schmid, MD, chief medical officer at Danaher Diagnostics. “How do we bring it to the patients?”
Danaher Corporation, which held a press briefing at ADLM 2025, is parent company to Leica.
ADLM 2025 took place in Chicago July 27-31at McCormick Place. (Photo credit: Scott Wallask.)
Labcorp Report Notes Costs as a Barrier
Anyone who has followed the slow progression of digital pathology knows adoption from the diagnostic lab industry has been lukewarm. In 2024, Labcorp released a report about clinical laboratory trends that indicated cost remained a hurdle to further use of digital pathology scanners and software. Based on a survey of 115 US-based pathologists, lab managers, and lab directors, the report concluded that just 33% of respondents had started orplanned to implementdigital pathologyin lab workflows.
“Industry adoption of digital pathology has been slower than expected, largely due to high initial costs,” Deborah Sesok-Pizzini, MD, MBA, chief medical officer at Labcorp, told Today’s Clinical Lab at the time. That publication is a partner brand to Dark Daily.
Digital Pathology Trends are Rosier in Europe
Leica has been able to convey a message to its customers that despite the initial costs, the return on investment for digital pathology is high in terms of more accurate diagnoses and quicker processes, Schmid said.
“When I look ahead 10 years, digital pathology will be as normal to labs as H&E staining,” he predicted, referring to common hematoxylin and eosin stains.
He added that while Labcorp’s study reflected US trends, digital pathology adoption is stronger elsewhere, based on what Danaher and Leica see with customers.
“Europe seems to be a little bit ahead in terms digitization,” including with whole-slide imaging, he noted. However, even in the US, “academic medical centers are moving very fast in this direction.”
Schmid’s assertion about Europe is supported by other sources. For example, a business case published in July 2024 by the UK’s National Health Service (NHS) for Wales indicated that Northern Ireland and Scotland had near-fully digitized cellular pathology programs for the NHS, and England was building up its network. Wales was seen as trailing behind these countries.
“The national move towards scanning of histological material for primary diagnosis and more recently, the adoption of artificial intelligence (AI)/computational pathology to improve the accuracy, reliability and quality of reports, means that most pathologists, especially new trainees who are already using digital technology, will, in the future, choose to work in departments where digital technology will enhance and underpin their diagnosis thus benefiting the quality of patient care,” the NHS Wales business case paper stated.
Computational Pathology’s Growing Role
Computational pathology—in other words, the use of data science, information, and digital technologies for laboratory medicine—is a key to moving precision medicine forward via digital pathology, said Nicole Selenko-Gebauer, MD, MBA, group vice president and chief innovation officer at Danaher Diagnostics.
“We need to complement technology-driven focuses” with a patient-centric approach, Selenko-Gebauer added.
Even in 2022, The Dark Report had alerted its readers to the promise of computational pathology, noting Mayo Clinic Laboratories’ early success in launching related clinical assessment goals based on digital pathology and artificial intelligence. (If you’re not a Dark Report subscriber, check out our 14-day free trial.)
Taken at that viewpoint, digital pathology trends related to patient care will be an important milestone for the technology.
“A pivotal moment will be the clinical utilization of digital pathology—that it works and is accurate,” Schmid said.
Pharmaceutical and biotech researchers convened last week to discuss their latest work on targeting neurodegenerative diseases
With all the news this year alone on progress being made with diagnostic testing for Alzheimer’s disease, clinical laboratory professionals will be interested to know that drug discovery efforts to combat neurogenerative diseases are also at a heightened pitch.
Last week at the one-day Neuroimmunology in Drug Discovery forum in Boston, scientists learned about the latest advances in therapeutic research to better treat Alzheimer’s disease, multiple sclerosis, and Parkinson’s disease. As the treatments advance, demand for them will increase, which goes hand-in-hand with medical lab testing to detect signs of these illnesses.
The concern is urgent. The US Food and Drug Administration (FDA) noted that 10% of people age 65 and older have Alzheimer’s disease, and that number could double by 2050. The FDA recently cleared the first in vitro diagnostics device that tests blood to diagnose Alzheimer’s, and other IVD manufacturers and clinical labs are working on other Alzheimer’s tests, Dark Daily reported.
“It’s looking quite promising for NLRP3 inhibitors,” said Cheryl Leyns, PhD, associate principal scientist in discovery neuroscience at Merck Research Laboratories, in discussing how mutations of the NLRP3 protein can lead to neurodegenerative diseases. (Photo copyright: ELRIG.)
Much of the discussion at the Neuroimmunology in Drug Discovery forum centered on the idea that neuroinflammation—in other words, inflammation of the brain or spinal cord—starts well before neurodegenerative diseases arise. Neuroinflammation can accelerate Parkinson’s disease and other neurodegenerative disorders, said Cheryl Leyns, PhD, associate principal scientist, neuroimmunology, at Merck Research Laboratories in Boston, who spoke at the event.
From that perspective, drug discovery researchers are on the prowl for these early signs of future problems.
Leyns discussed NLRP3, a protein that aids the body’s inflammation process. A mutation of NLRP3 can lead to inflammatory problems, making the protein a prime target for researchers. “We have been interested, in the biopharma space, in the potential of NLRP3 inhibitors,” she noted.
Older Immune Systems Are Susceptible
While many in the public correctly associate Alzheimer’s with a person being outwardly older, a lesser-known aspect is that the body’s immune system also ages, becoming more susceptible over time to chronic inflammation.
Wailings’ assertion was not rhetorical. She pointed to numbers which showed scholarly research that involved the terms “inflammation,” “neurodegeneration,” and “aging” was only about 17% of the total amount of journal articles that addressed the first two terms, but which did not include “aging.”
As the pharmaceutical, biotech, and medical fields move aggressively forward to defend people against neurodegenerative diseases like Alzheimer’s, clinical laboratory scientists should take comfort that diagnostic testing trends are solidly in the mix.
Therapeutic advances, along with increased options for testing, show promising signs that patients and their caregivers will have more tools to use in the battle against these illnesses.
Artificial intelligence tools for radiology, clinical laboratory, and pathology diagnostics continue to advance and improve
Researchers in Germany have developed a fully automated, artificial intelligence (AI) tool that improves the diagnosis of prostate cancer. Developed by mediaire, a company that creates AI-based tools for radiologists, the software reduces clinical workloads and could be beneficial in counteracting issues associated with variability in magnetic resonance imaging (MRI) reporting. This is another example of AI’s growth in the clinical diagnostic industry, including clinical laboratory and pathology medicine.
The software, called mdprostate, has received the mandatory certification mark (CE or European Conformity) for products sold within the European Economic Area (EEA). It is now commercially available in those countries and was recently incorporated into the picture archiving and communications system (PACS) of some healthcare organizations and applied to a group of patients who had undergone a multiparametric prostate MRI (mpMRI).
The goal was to compare the overall performance of mdprostate against radiologists who executed the initial interpretations of the mpMRIs, according to Health Imaging.
“Mdprostate is intended to support radiologists by automating time-consuming processes and improving the objectivity of diagnosis through data quantification,” said Tonia Michaely, chief of staff at mediaire, in a news release.
“By providing objective assessments and standardizing lesion detection and classification, AI has the potential to augment radiologists’ performance throughout the PCa [prostate cancer] diagnostic pathway,” Nadine Bayerl, Dr. med., a radiologist with the Institute of Radiology at University Hospital Erlangen and corresponding author of the mediaire study, told Health Imaging. (Photo copyright: University Hospital Erlangen.)
Scoring Cancer Risk
To perform the comparison, a team of researchers applied the AI tool to 123 prostate MRI exams followed by systematic and targeted biopsies. The software was instructed to automatically segment the prostrate, calculate prostate volume, and classify lesions per the Prostate Imaging Reporting and Data System (PI-RADS).
PI-RADS, according to the America College of Radiology, is a reporting method that indicates how likely a lesion is to be clinically significant cancer on a score of one to five:
PI-RADS 1: very low (clinically significant cancer is highly unlikely to be present).
PI-RADS 2: low (clinically significant cancer is unlikely to be present).
PI-RADS 3: intermediate (the presence of clinically significant cancer is equivocal).
PI-RADS 4: high (clinically significant cancer is likely to be present).
PI-RADS 5: very high (clinically significant cancer is highly likely to be present).
For PI-RADS scores greater than two, mdprostate generated 100% sensitivity and dismissed all cancers for lesions that were below that threshold. For PI-RADS scores of four or higher, the AI tool yielded 85.5% sensitivity and specificity of 63.2% for clinically significant cancers.
Deep Learning in Diagnostic Pathway
“In practical terms, these results indicate that when a case falls below the PI-RADS ≥ 2 cutoff, clinicians can rule out malignancy with a high degree of confidence,” the authors explained in the European Journal of Radiology. “This capability is particularly valuable in clinical decision-making, as it allows for the safe avoidance of unnecessary biopsies or further invasive procedures in these patients.”
“Recent advances in deep learning algorithms, facilitated by larger labeled datasets, improved computing hardware, and refined training techniques, have led to several studies highlighting the diagnostic value of deep learning algorithms in prostate imaging,” radiologist Nadine Bayerl, Dr. med., Institute of Radiology at University Hospital Erlangen and corresponding author of the study, told Health Imaging.
The software “demonstrated high diagnostic performance in identifying and grading prostate lesions, with results comparable to those reported in meta-analyses of expert readers using PI-RADS,” the researchers noted in their published study.
“Its ability to standardize evaluations and potentially reduce variability underscores its potential as a valuable adjunct in the prostate cancer diagnostic pathway. The high accuracy of mdprostate, particularly in ruling out prostate cancers, highlights its clinical utility by reducing workload and enhancing patient outcomes,” they concluded.
AI in Clinical Laboratories and Pathology
Dark Daily has frequently covered AI’s expanding role in clinical laboratory testing and pathology diagnostics. At the recent Executive War College, a dozen sessions explored its growth in the industry. During one session, Sam Terese, CEO and president at Alverno Laboratories said, “AI is allowing us to drive our business. It is really resonating that we need to use AI in the future.”
Members who could not attend the 2025 Executive War College can order audio recordings of these valuable sessions by clicking here.
