NEWS
100,000 Genomes Project identifies complex changes
A new genomic method has identified 145 participants from the 100,000 Genomes Project with a complex genetic change linked to a rare condition, providing some with an explanation for their rare condition for the first time and others with a more precise diagnosis. The complex structural genetic changes identified are often not detected by standard tests, highlighting the benefit that whole genome sequencing can have. By analysing the DNA from 13,700
parents and children from Genomics England’s 100,000 Genomes Project, researchers at the Wellcome Sanger Institute, Genomics England, Cambridge University Hospitals, and their collaborators found that many of these genetic changes, known as structural variants, directly disrupt genes involved in childhood development. Published recently in Nature Communications, this study found that one in eight of these structural variants were complex, often involving multiple changes, and these were twice as likely to be missed by current clinical tests. The researchers have developed a new pipeline, or step-by-step method, that allows them to spot these genetic changes and classify them into different groups depending on the impact they had on a participant’s genome. They hope that this method has the potential to help improve the diagnosis and management of rare conditions in the future. Structural variants are changes in large chunks of DNA where segments of DNA can be added, removed, moved to a new location in the genome, or inverted. Structural variants can lead to health conditions if they impact genes associated with a rare disorder.
The team was able to identify 145 participants with a structural variant linked to their rare condition, providing some with an explanation for their rare condition for the first time and others with a more precise diagnosis. They also found 66 of these participants – nearly half – have variants that are difficult to detect with other types of genetic test. n Jung H, Yang TP, Walker S, et al. Complex de novo structural variants are an underestimated cause of rare disorders. Nat Commun. 2025;16(1):9528. doi:10.1038/s41467-025-64722-2
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NHS ‘reset’ promises end to short-term thinking
NHS England has promised an end to short-term thinking with the release of a new planning framework document, which also sets out more detail on shifting more healthcare to community settings. NHS Medium Term Planning Framework – Delivering Change Together (2026/27 to 2028/29) aims to strip out layers of bureaucracy, remove complicated and unnecessary rules, and free up local leaders to get on with the job of delivering for patients. It signals an end to ‘short term thinking’ holding back frontline services and will break the cycle of ‘just about managing’ – giving the NHS the certainty and headroom it needs to fix the fundamental problems we face today and be truly ambitious for the future. The three-year roadmap sets out the NHS plan to get back to delivering against its constitutional standards on elective care, which will see 2.5 million fewer patients waiting more than 18 weeks
for treatment by March 2029. Meeting these ambitious targets will be achieved by transforming how services are delivered – shifting more care out of hospital, freeing up capacity to drive down waiting times – and major improvements in health service productivity. As part of the biggest shake up of the NHS financial regime in more than a decade, hospitals will be financially incentivised to ensure more patients are treated out of hospital, instead receiving the care they need from local neighbourhood teams and in community diagnostic centres. Sir Jim Mackey, CEO of NHS England said: “For too long the NHS has been stuck in a doom-loop of not being able to properly plan beyond each financial year and responding to overly-bureaucratic processes that have stifled local leadership and innovation. We have to get out of the trap of short-term thinking and break the cycle of ‘just about managing’.”
Collaboration to deliver integrated spatial biology solutions
Immunohistochemistry firm Biocare Medical and Hamamatsu Corporation, an innovator in imaging technologies, have announced a strategic collaboration to
accelerate innovation in the rapidly expanding field of spatial biology. Under the agreement,
Biocare will co-exclusively offer Hamamatsu’s MoxiePlex multi-spectral imaging system together with its own ONCORE Pro X automated staining instrument. This integrated solution delivers a seamless, end-to-end workflow from multiplex immunofluorescence and IHC staining to high-resolution digital imaging, empowering pharmaceutical and biotech companies, academic research institutions, and contract research organisations (CROs) to achieve new levels of precision and efficiency in spatial biology research and translational programmes.
“This collaboration unites Biocare’s leading staining expertise with Hamamatsu’s advanced digital imaging
technologies to deliver a complete solution for spatial biology,” said David Anderson, VP of Strategic
Partnerships at Biocare. “Together, we’re helping researchers generate high-quality, digital-ready data faster, accelerating discovery in cancer research and
drug development.” Hamamatsu’s MoxiePlex system is
already being utilised in research-use-only initiatives with prominent cancer centres and CROs, supporting advancements in immuno-oncology and translational science. The agreement with Biocare strengthens Hamamatsu’s presence within the IHC and spatial biology markets through Biocare’s established staining platforms and global partnership network.
DECEMBER 2025
WWW.PATHOLOGYINPRACTICE.COM
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