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

Our practical online course dedicated to genomic testing for rare disease within the NHS is approaching its latest run, hosted by expert mentors The availability and applicability of genomic testing for a range of rare conditions continues to increase across the NHS thanks to the expansion of Genomic Test Directory. For those clinicians keen to understand the practical aspects of requesting genomic testing, the NHS England Genomics Education programme is beginning a new run of its popular, practical online course Genomics in the NHS: A clinician’s guide to genomic testing for rare disease. Sta ..read more

We explore polygenic risk scores and why their application in at-home genomic testing has been brought into question A large British Medical Journal study has questioned the usefulness of polygenic scores for predicting disease risk, with results suggesting an effect on healthcare “disproportionate to their performance”. In this blog, we explain the findings and their practical implications, especially when used in direct-to-consumer testing, and introduce an NHS-partnered research programme that aims to develop a new, more reliable type of risk score. What are polygenic risk scores? Historica ..read more

The Generation Study will explore the benefits and challenges of sequencing the genomes of 100,000 newborn babies In our previous blog, we looked at the Generation Study, a collaboration between Genomics England and the NHS, that will look for rare genetic conditions where early treatment can be beneficial. In this blog, we examine the principles and screening parameters of the study. Genomics England has published a list of 223 conditions that will be screened for by the study. These conditions were selected in accordance with four key principles, which were developed in consultation with cli ..read more

This winter sees the start of the Generation Study, which will explore the benefits and challenges of sequencing the genomes of 100,000 newborns The new research study is part of the Newborn Genomes Programme that was announced in 2022 by Genomics England (who ran the 100,000 Genomes Project) and will be run in partnership with the NHS.  Currently, thousands of children are born every year in the UK with a rare but treatable genetic condition. The study will use whole genome sequencing to look for rare genetic conditions in newborns, enabling treatment to begin sooner.   “Earlie ..read more

Genomic testing capabilities are advancing in affordability and accessibility by the day. But what is the current trajectory of whole genome sequencing in healthcare? As massively parallel sequencing, also known as next-generation sequencing, facilitates faster, cheaper access to the genome, genomic testing is touching more areas of healthcare than ever before. Here, we take a look at how this mission to bring genomics to mainstream healthcare has developed. The evolution of genomic testing In computer science, Moore’s law predicts that computing power will double every two years, while the co ..read more

Testing for cell-free DNA is growing beyond its current use in prenatal testing, but how else is it used in practice today? The applications for using cell-free DNA (cfDNA) are expanding, beyond non-invasive prenatal testing (NIPT) for trisomies and liquid biopsy tests for cancer. Here we outline some established and newer strategies taking advantage of the wealth of information that a single blood sample can provide. What is cfDNA? When the cells in our bodies die, their contents are broken down to be re-used, including their genetic material. Some DNA fragments from these cells end up in the ..read more

The annual Festival of Genomics and Biodata returns to London on Wednesday 24 and Thursday 25 January 2024. The two-day festival will feature inspirational speakers who will discuss the latest in research, clinical breakthroughs and cutting edge technology. Aimed at all those working in the genomics community or those with an interest in genomics and biodata, the event is the place to discover, meet, learn and celebrate! The festival remains free for those working in the NHS and many others. To find out more information visit their event page. The post The Festival Of Genomics & Biodata 20 ..read more

The South East Genomic Medicine Service are hosting a Genomics Autumn Festival. Hear from the experts and join in the discussions about the latest developments in genomics & paediatrics including newborn screening, whole genome sequencing and precision medicine. This is a virtual event taking place October 19th from 12 – 2pm, everyone is very welcome! Topics will include: Screening newborns for genomic disease: The Generation Research Study Rapid whole genome sequencing for acutely unwell children (R14 testing) Precision medicine: using genetic diagnosis to inform and personalise treatmen ..read more

The NHS North Thames and South East Genomic Medicine Service Alliance are hosting a free Genomics & Inherited Epilepsy Study Day event, experts will share their knowledge of epilepsy & genetics and how to support patients. Designed for healthcare professional colleagues, wanting to hear the latest in research and developments associated with epilepsy. Speakers will cover the following topics: Basic Concepts in Epilepsy Genetics Management of Genetic Epilepsy The latest research and targeted therapies Special populations and groups-pregnancy, learning disabilities Nurse-led clinics Cas ..read more