Managing editor at GenomeWeb, a brand of Crain Communications. Covers genomic technology, molecular diagnostics, and precision medicine
Articles by Julia Karow
Germany's Precision Medicine Pilot Project Gains Steam After Putting Data Infrastructure in Place
NEW YORK – Two years after its kickoff, Germany's genomics-guided precision medicine national pilot project has enrolled almost 15,000 rare disease and advanced cancer patients across the country and is ramping up to recruit more than 100,000 patients by 2029.
Drastic Clinical Sequencing Reimbursement Cuts in Germany Will Put Providers Under Pressure
NEW YORK – Clinical genetics service providers in Germany are up in arms about a decision by the country's public health insurance system last week to drastically cut reimbursement rates for genetic testing and medical genetics services, which they say could threaten their viability and jeopardize patient care.
Illumina Partners With Rapid Newborn Diagnostic Sequencing Projects for New Study
GOTHENBURG, Sweden – Illumina on Monday announced the launch of a new study, in partnership with centers in Europe and the Middle East, that aims to increase the number of diagnoses for children with rare diseases who underwent rapid whole-genome sequencing when they were in neonatal or pediatric intensive care but whose cases remain unsolved.
In Pilot Study, Oxford Nanopore Shows Promise for Rare Disease Testing but Misses Some CNVs
GOTHENBURG, Sweden – Researchers at University Medical Center Utrecht in the Netherlands have found Oxford Nanopore's sequencing technology to be promising for rare genetic disease testing, but it still needs to improve its ability to correctly call diagnostically relevant copy number variants, along with better data visualization and quality control tools.
At ESHG, Roche Provides Axelios Roadmap, Early Customers Report Results
GOTHENBURG – Early-access customers of Roche's Axelios 1 sequencer, which will launch commercially this summer, continue to kick the tires of the new platform for potential applications in the rare disease diagnostics space. At the European Society of Human Genetics annual meeting here on Sunday, Roche provided an update on its roadmap for Axelios and new applications in development, while researchers from Broad Clinical Labs and Centogene reported their experience with the new platform.
ESHG Study Finds Long-Read Rare Disease Testing Improves Interpretation, Time to Result
GOTHENBURG – Long-read genome sequencing as a first-tier diagnostic test for rare diseases may not substantially increase the diagnostic yield but does reduce the need for follow-up testing and overall time to diagnosis, according to early results from a new implementation study in the Netherlands.
Illumina to Launch Whole-Genome Sequencing MRD Detection Kit in 2027
NEW YORK – Illumina on Thursday jumped into the molecular residual disease testing fray by announcing a whole-genome sequencing-based tumor-informed MRD detection kit for clinical research that it plans to make widely available next year. The release comes a day before the start of the American Society of Clinical Oncology's annual meeting, where several providers of clinical MRD tests that use Illumina's sequencing technology will present new results.
Illumina to Launch Whole-Genome Sequencing MRD Detection Kit in 2027
NEW YORK – Illumina on Thursday jumped into the molecular residual disease testing fray by announcing a whole-genome sequencing-based tumor-informed MRD detection kit for clinical research that it plans to make widely available next year.
NIH All of Us Program Plans 2026 Data Release, Boost of Pediatric Enrollment, New Studies
NEW YORK – Following a year marked by budget cuts and the transition to a new participant platform, the National Institutes of Health's All of Us Research Program plans to release new data to researchers in 2026, including multiomics data; launch new collaborations; re-engage with participants; and increase pediatric enrollment.
NIH All of Us Program Plans 2026 Data Release, Boost of Pediatric Enrollment, New Studies
NEW YORK – Following a year marked by budget cuts and the transition to a new participant platform, the National Institutes of Health's All of Us Research Program plans to release new data to researchers in 2026, including multiomics data; launch new collaborations; re-engage with participants; and increase pediatric enrollment.
ASHG: In Pilot Study, LLMs Outperform Clinical Geneticists in Making Diagnoses
BOSTON – A small but insightful pilot study has provided a glimpse of how large language models (LLMs) could find a place in clinical genetics as a useful tool for physicians needing to diagnose patients with genetic conditions when experts in the field are not available.
Survey: Researchers Devastated by NIH Funding Cuts, Question Future of US Biomedical Science
NEW YORK – For more than 10 years, Mike Snyder, a professor and former chair of genetics at Stanford University School of Medicine, has been running an annual summer program for students from underrepresented groups, and before that, a similar program at Yale University.
CDC Quietly Reinstated Viral Hepatitis Lab, Other Centers Prior to Judge's Block of HHS Cuts
NEW YORK – A federal judge on Tuesday ruled that the US Department of Health and Human Services' March decision to lay off 10,000 staff members as part of a major restructuring was unlawful, and issued a preliminary injunction on the implementation of the changes at four HHS agencies, including the Centers for Disease Control and Prevention.
CDC Quietly Reinstated Viral Hepatitis Lab, Other Centers Prior to Judge's Block of HHS Cuts
NEW YORK – A federal judge on Tuesday ruled that the US Department of Health and Human Services' March decision to lay off 10,000 staff members as part of a major restructuring was unlawful, and issued a preliminary injunction on the implementation of the changes at four HHS agencies, including the Centers for Disease Control and Prevention.
ESHG: Studies Demonstrate Potential of Long-Read Sequencing in Rare Disease Diagnostics
NEW YORK – Manufacturers of long-read sequencing platforms have long touted the technology's potential in rare disease diagnostics because it can detect structural variants, short tandem repeats (STRs), and methylation signatures in a single assay. However, cost, informatics requirements, and other implementation hurdles have hindered its wide adoption so far.
ESHG: Proteomics Assays Help Validate Variants of Unknown Significance, Boost Diagnostic Yield
MILAN – Rare disease diagnostics has immensely benefitted from whole-exome or whole-genome sequencing in recent years, but for more than half of patients, a causal variant still cannot be determined, though many receive back variants of unknown significance (VUS). Functional assays of various kinds can help assess and validate VUS and candidate variants.
Genomics England Newborn Genome Sequencing Study Reports First Results at ESHG
MILAN – The Generation Study, a large-scale newborn research study in England that aims to test genome sequencing for screening newborns for rare, treatable genetic conditions, has started reporting its first results to participants. The study, which began enrollment about a year ago, plans to sequence the genomes of at least 100,000 newborns in order to detect genetic variants associated with more than 200 childhood-onset, actionable genetic conditions.
European Sperm Donor Passes on Cancer Predisposition Variant to at Least 23 Children
MILAN – A donor to a European sperm bank has transmitted a likely pathogenic variant for Li-Fraumeni syndrome, a genetic condition that predisposes carriers to a variety of cancers, to almost two dozen children he fathered, of whom 10 have developed cancer so far. The man is healthy, and his sperm is mosaic for the variant, which had not shown up in any cancer patients at the time of his donation.
Trump Administration Terminated $544M in Unexpended NIH Funding in Less Than Six Weeks
NEW YORK – In less than six weeks, the Trump Administration canceled more than $544 million worth of unexpended funding from active National Institutes of Health grants, according to an analysis by researchers at Yale School of Medicine and Harvard Medical School. While the study didn't shed light on the types of research topics targeted, it is one of the first attempts to systematically tally the effects of President Trump's cuts to ongoing NIH funding.
Promega Microsatellite Instability Detection Kit Garners China NMPA Approval
NEW YORK – Promega said Tuesday that its ProDx MSI Detection Kit has received an innovative medical device registration certificate from China's National Medical Products Administration (NMPA).
Promega Microsatellite Instability Detection Kit Garners China NMPA Approval
NEW YORK – Promega said on Tuesday that its ProDx MSI Detection Kit has received an innovative medical device registration certificate from China's National Medical Products Administration (NMPA).
All of Us Research Program, Unfazed by Funding Cuts, Lays Out Plans Through 2026 Original
NEW YORK – The National Institutes of Health's All of Us Research Project is looking to launch new studies with research partners, add multiomics data to its cohort, and expand enrollment of pediatric participants, all despite severe budget cuts that has forced the program to lower its costs and reduce some of its activities.
CDC Viral Hepatitis Lab for Outbreak Investigations, Diagnostics Falls Victim to HHS Cuts
NEW YORK – As the Centers for Disease Control and Prevention started to slash its workforce on Tuesday, a laboratory that appears to be at the center of its mission — containing disease epidemics and outbreaks — was eliminated: the viral hepatitis laboratory.
Genomics England's Generation Study Starts Enrolling First Newborns
MADRID – The Generation Study, a newborn genomics research project run by Genomics England in partnership with the UK's National Health Service, has enrolled its first families and plans to continue its phased rollout throughout the year. At the Association for Molecular Pathology's AMP Europe 2024 meeting here on Monday, Amanda Pichini, clinical director at Genomics England and a genetic counselor, provided an update on the study, which plans to screen 100,000 newborns by genome sequencing.
German Precision Medicine Model Project Gets Ready for Kickoff as Commercial Providers Cry Foul
NEW YORK – Following the start of the European soccer championship in Germany last week, the country is preparing to kick off another large endeavor next month: its national pilot project for genomics-guided precision medicine.
ESHG: Neoantigen Vaccine Helps Prevent Cancer in Lynch Syndrome Patients
BERLIN – A neoantigen vaccine was able to prevent cancer in a subset of Lynch syndrome patients who mounted a T-cell response to one of the neoantigens, increasing their chance of remaining disease-free over 10 years, according to results from a small clinical trial in the Netherlands.
ESHG: Short-Read Genome Sequencing Boosts Rare Disease Diagnoses in European Solve-RD Project
BERLIN – Short-read whole-genome sequencing has already led to diagnoses for dozens of families with rare diseases who had remained undiagnosed after exome sequencing, and there will likely be more cases solved with further interpretation of the data, according to results presented here on Sunday at the European Human Genetics Conference.
ESHG: High-Risk Pediatric Cancer Survival More Than Doubles in Australian Precision Medicine Trial
BERLN – Targeting cancer treatments based on multiomic profiling improved progression-free survival in pediatric patients with high-risk cancers, according to initial results from a trial in Australia presented here at the annual European Human Genetics Conference.
Early IDENTITY Trial Results Suggest Half of Women With Non-Reportable NIPT Result Have Cancer
TORONTO – Women who receive a "non-reportable" result from a noninvasive prenatal cell-free DNA test carry a high risk of having cancer and should be referred for further testing, preferably a whole-body MRI, according to early results from an ongoing clinical study.
Early IDENTIFY Trial Results Suggest Half of Women With Non-Reportable NIPT Result Have Cancer
TORONTO – Women who receive a "non-reportable" result from a noninvasive prenatal cell-free DNA test carry a high risk of having cancer and should be referred for further testing, preferably a whole-body MRI, according to early results from an ongoing clinical study.
Groups Preview Updates to Sequence Variant, CNV Classification Standards at ACMG Meeting
TORONTO – Current standards to help diagnostic laboratories and clinicians classify sequence and copy number variants with a potential role in Mendelian diseases are getting a makeover. At the American College of Medical Genetics and Genomics annual meeting here on Tuesday, members of two working groups developing new versions of sequence variant and CNV standards provided a glimpse of the proposed changes and asked participants for their opinions.
Fore Genomics Offering Whole Genome-Based Newborn Screening to Parents
NEW YORK – As large-scale research projects exploring genome sequencing for newborn screening are getting underway worldwide, a number of companies are starting to offer genomic testing for newborns and children as a commercial service directly to families.
Germany to Test Genomics-Based Precision Medicine for Cancer, Rare Disease in National Pilot Project
NEW YORK – Germany is embarking on a large-scale national pilot project to evaluate the utility of genomic sequencing for patients with advanced cancer and rare diseases.
Germany to Test Genomics-Based Precision Medicine for Cancer, Rare Disease in National Pilot Project
NEW YORK – Germany is embarking on a large-scale national pilot project to evaluate the utility of genomic sequencing for patients with advanced cancer and rare diseases.
International Newborn Genome Sequencing Projects Discuss Differences, Future Goals
LONDON – Newborn genome sequencing projects focusing on seemingly healthy babies shortly after birth are forging ahead around the world, but their approaches differ according to each country's population structure, disease prevalence, healthcare system, treatment availability, and more.
Inex Innovate to Launch PCR-Based Endometrial Cancer Detection Test
MILAN – Inex Innovate of Singapore plans to launch a PCR-based endometrial cancer detection test this summer, following interim results from a clinical study with researchers at the Chinese University of Hong Kong that were presented here at the Association of Molecular Pathology 2023 Europe Congress this week. Endometrial cancer is the most common gynecological cancer, with more than 400,000 newly diagnosed cases each year around the world and almost 100,000 annual deaths.
ACMG: Rare Disease Patients in Poor Countries See Benefit from Clinical Whole-Genome Sequencing
SALT LAKE CITY – Clinical whole-genome sequencing has provided molecular diagnoses for many rare disease patients already, but the test has been largely confined to high-income countries like the US and European nations. Even within those countries, though, clinical WGS has been out of reach for patients without the means to pay for it or insurance to cover the test.
UK Startup LEX Diagnostics Developing Ultra-Fast Low-Cost PCR for Infectious Disease Dx Original
PHOENIX – UK-based LEX Diagnostics is working on an ultra-fast point-of-care real-time PCR platform for infectious disease diagnostics that can deliver results within five minutes at a price point similar to current antigen tests. The company, a spinoff from UK technology development firm TTP Group, was founded in early 2020 at the height of the COVID-19 pandemic and is based in the Melbourn Science Park, a few miles south of Cambridge.
Genomic Newborn Screening Studies Around the World Begin to Take Baby Steps
NEW YORK – Newborn screening (NBS) has been a part of public health programs in many countries for decades, focusing on a limited number of rare diseases with onset in early childhood and established treatments. Tandem mass spectrometry is currently the technology of choice for most NBS programs.
GUARDIAN Study to Explore Newborn Screening by Genome Sequencing in 100K Babies in NYC
NEW YORK – A new research study in New York City called GUARDIAN (Genomic Uniform-screening Against Rare Diseases in All Newborns) is exploring the utility of whole-genome sequencing for screening newborns for rare and, for the most part, treatable genetic conditions.
ESHG: UK Study Finds 6 Percent of Renal Cell Carcinoma Patients Carry Cancer Risk Variant Original
VIENNA – About 6 percent of renal cell carcinoma (RCC) patients carry a germline cancer risk variant, including in genes not previously associated with the disease, according to a new study by researchers in the UK, suggesting that additional genes should be included in panels for RCC patients and that more patients should be tested.
Study of Sudden Unexpected Death in Children Reveals New Genetic Factors
NEW YORK – Researchers at Boston Children's Hospital have uncovered new genetic factors involved in Sudden Unexpected Death in Pediatrics (SUDP) in a study that combined exome sequencing analysis with detailed phenotyping. The study, presented at the American College of Medical Genetics and Genomics Annual Clinical Genetics Meeting this week, found several genes with functions in neurological disease or systemic/syndromic conditions that had not previously been implicated in the condition.
Bionano Genomics Outlines Strategy for Clinical Adoption of Optical Genome Mapping
NEW YORK – Bionano Genomics believes that 2021 will be transformative for getting its Saphyr optical genome mapping system in the hands of more users, seeing the approach adopted by cytogenetics laboratories for clinical diagnostics, and laying the foundation for reimbursement of Saphyr tests by health insurance.
DNA Script Preparing Launch of Benchtop Enzymatic Synthesizer for 'DNA on Demand'
NEW YORK – Following about a year of testing with collaborators, DNA Script is getting ready to launch its benchtop enzymatic DNA synthesis (EDS) instrument, called Syntax, later this year, initially targeting molecular biology and genomics research labs with a high demand for oligonucleotides.
At AGBT, Two Labs Share SARS-CoV-2 Genomic Surveillance Experience
NEW YORK – With mutants of the SARS-CoV-2 virus on the rise all over the world, some more contagious than the wild type and others dodging the just-released vaccines, genomic surveillance to monitor their spread is becoming more important than ever.
Natera Launches Tumor Genomic Profiling Assay, Expects Reproductive Health to Break Even This Year
NEW YORK – In a move to expand its footprint in oncology beyond liquid biopsy testing, Natera this week launched a tumor genomic profiling assay for therapy selection that will likely put it in direct competition with other laboratories that have being offering tissue-based cancer testing.
German Medical Center to Report Polygenic Risk Scores as Part of Clinical Whole-Genome Testing
NEW YORK – University Hospital Tübingen in Germany is embarking on a new project, called Ge-Med, that will replace diagnostic exome sequencing with whole-genome sequencing across a variety of genetic conditions, including familial cancer syndromes and rare genetic disorders. The program is also among the first to explore polygenic risk scores (PRS) in a routine clinical setting.
Stanford Team Developing Low-Cost, At-Home, Molecular COVID-19 Saliva Test
NEW YORK – Researchers at Stanford University have been developing a low-cost, molecular COVID-19 saliva test that they plan to commercialize for use at home as well as in low-resource settings. Get the full story with GenomeWeb Premium Only $95 for the first 90 days* GenomeWeb Premium gives you: ✔ Full site access ✔ Interest-based email alerts ✔ Access to archives Never miss another important industry story. Try GenomeWeb Premium now. You may already have institutional access! Check if I qualify.
Hong Kong Team Develops Method to Improve PacBio Direct Cytosine Methylation Detection
NEW YORK – Researchers led by a team at the Chinese University of Hong Kong (CUHK) have developed a new method that greatly improves the detection of DNA cytosine methylation using Pacific Biosciences single-molecule real-time sequencing data. Get the full story with GenomeWeb Premium Only $95 for the first 90 days* GenomeWeb Premium gives you: ✔ Full site access ✔ Interest-based email alerts ✔ Access to archives Never miss another important industry story. Try GenomeWeb Premium now.
At JPM, Natera CEO Lays Out Growth Potential for NIPT, Transplant, Cancer Testing
NEW YORK – Natera officials said on Tuesday that the company processed more than 1 million tests in 2020, among them about a million for the reproductive health business alone. The company also exceeded its pre-pandemic goals for growing its Prospera transplant testing business while launching its Signatera cancer test and securing reimbursement for it.
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