England’s latest Lynch syndrome patient database may transform the disease’s detection and monitoring, becoming a blueprint for other genomic diseases In a UK first, clinical scientists have reportedly created a new registry to bring together the information from various Lynch syndrome databases into one place. Called the English National Lynch Syndrome Registry (ENLSR), it will help in the management of, and early screening for, some Lynch syndrome-associated high-risk cancers. It may also provide NHS patients in England early access to novel treatments. This new patient registry could be the ..read more

Genomic databases have a diversity problem, but hopefully not for long. Here are five notable biobanks recruiting from under-represented populations to bridge the genomics gap Biobanks are organised large collections of biological samples that are used for medical and health research purposes. The samples are well-characterised, annotated, and the appropriate consent about each of them is recorded. Reliant on donations of relevant biological samples, biobanks are often made available for researchers from around the world to access. For a variety of cultural, economic and historical reasons, th ..read more

A CRISPR-based genome therapy has shown promising results for patients with a rare genetic swelling disorder Researchers conducting a CRISPR-based therapy study on hereditary angioedema, an inherited rare disorder, have published positive results from phase one of the trial. The study, which involved 10 patients, reported significant reductions in symptoms and no severe side effects. Hereditary angioedema Affecting around 1 in 50,000 people, the condition causes fluid to accumulate outside of the blood vessels, which results in attacks of swelling. The recurrent episodes are unpredictable and ..read more

A new approach for faster diagnosis of respiratory infections could also help monitor potential outbreaks of bacterial or viral diseases A rapid genetic test for diagnosing respiratory infections is being rolled out to a large pilot group of intensive care units in England, following a successful trial at Guy’s and St Thomas’ hospitals in London. The test uses an approach called metagenomics to do so, but what is that, exactly, and what other applications could it have? What is metagenomics? Metagenomic approaches work by obtaining genomic sequences from all organisms present in a sample. In t ..read more

NHS England has launched a testing service for people with Jewish ancestry to see if they carry a potentially harmful BRCA variant Testing through the NHS Jewish BRCA Testing Programme is available to anyone aged 18 or older who receives NHS care in England and who has at least one Jewish grandparent. This includes people who do not practise the Jewish faith, or do not identify as Jewish. BRCA genes The BRCA1 and BRCA2 genes are tumour suppressor genes that are important for repairing breaks in DNA which contributes to protecting against cancer. However, when there are certain changes in the s ..read more

A new ‘bedside’ test that quantifies webs of DNA is now being trialled in the NHS to help identify potential sepsis A blood test to help detect patients at risk of sepsis is being trialled at Guy’s and St Thomas’ NHS Foundation Trust. The test looks for a protein associated with a type of DNA web found outside the cells that is part of the immune response to infection. The test can return results within 45 minutes, which allows patients to receive antibiotics within one hour, in line with NHS protocols. “Sepsis is the number one cause of death in hospitals, and mortality increases as much as 8 ..read more

We explore how data from the 100,000 Genomes Project is still being used to great effect in cancer prevention and treatment Whole genome sequencing can play an important role in delivering personalised care to cancer patients, a study has demonstrated. The research, led by NHS England and Genomics England and published in Nature Medicine, supports the expansion of genomic testing in cancer care across the NHS. “We are starting to realise the promise of precision oncology that was envisioned ten years ago when the 100,000 Genomes Project was launched,” said co-lead author of the research Dr Nir ..read more

The use of the targeted therapy has been expanded to include certain types of breast, prostate, ovarian, fallopian tube and primary peritoneal cancers In the past nine months NICE has published three recommendations for the drug olaparib, which will increase access for patients with certain types of cancer. The first two recommendations, published in May 2023, were to make it an option for adults who are affected by metastatic prostate cancer or certain breast cancers with BRCA1 or BRCA2 variants. The latest recommendation is for olaparib to be prescribed alongside another targeted therapy, be ..read more

We take a closer look at the new three-year strategic framework for integrating genomic medicine into pharmacy education and training Genomics is emerging as a powerful tool to allow a truly personalised approach to healthcare, and is becoming increasingly relevant in medicines optimisation. NHS England has launched a new pharmacy genomics workforce, education and training strategic framework, which builds on NHS England’s 2022 strategy, Accelerating genomic medicine in the NHS, which placed emphasis on developing personalised medicine through improvements in predicting, preventing and diagnos ..read more

A new RNA-based therapy for Alzheimer’s disease that’s in clinical trial phase could be the first of its kind to use ‘gene silencing’ for the condition Alzheimer’s disease is a progressive neurodegenerative disorder that affects brain function and results in substantial disability and although there are treatments available to reduce symptoms, there is currently no cure for it. The new treatment that is in clinical trial phase at the University College London (UCL) and University College London Hospitals (UCLH) is using a genetic therapy to safely lower levels of the harmful tau protein known ..read more