The innovative liquid biopsy tests detect cancer by looking for fragments of circulating tumour DNA (ctDNA) in blood samples. They are now available through the NHS genomic medicine service. 

Dr Brent O'Carrigan, Consultant Medical Oncologist, Addenbrooke’s Hospital and Clinical Cancer Lead, East Genomics said "This is a welcome innovation for patients with cancer across the UK. Using techniques pioneered in our region, we can detect genetic changes in cancer through a simple blood test. This means faster results, reducing the time our patients spend worrying and helping them to access the best treatments sooner". 

Around 15,000 people a year could have liquid biopsy tests to inform diagnosis and treatment of non-small cell lung cancer (NSCLC; Test M4.14) cancer. A further 5,000 liquid biopsies could be used to guide the use of targeted treatments in people with advanced breast cancer (Test M3.13). These tests have specialist referral requirements. Find out how to order.

Read the full story on our website. 

In the published work, the team at NUH utilised the new approach during 50 brain tumour surgeries to deliver rapid, intraoperative diagnoses. This approach has achieved a 100% success rate, providing diagnostic results in under two hours from surgery and detailed tumour classifications within minutes of sequencing. Moreover, the platform’s ability to continue sequencing enables a fully integrated diagnosis within 24 hours.

Every day in the UK 34 people are diagnosed with some form of brain tumour, equating to more than 12,000 cases a year. The average survival rate can be less than a year for the most aggressive brain cancers....Read the full story here.

To mark the occasion, Unique released a special updated edition of its much-loved “Little Red Book”, now featuring powerful, personal stories from across the globe. This collection not only informs but honours the voices and experiences of the rare chromosome community.

Although individually rare, chromosome and gene disorders collectively affect thousands. Awareness days like this one are vital in driving forward research, advocacy, and public understanding. For more information, please visit: Rarechromo.org. 

• Read Sarah-Jane and Hannah's story: Taking the fear out of Down Syndrome

Maternity and Midwifery Forum 2025

At the 2025 Maternity and Midwifery Forum in Nottingham last month, East Genomics' Lead Midwife Jo Hargrave and Central and South Genomics’ Lead Midwife Karen Creed put together a presentation on the topic “From DNA to delivery and beyond – Making genomics your ally”, delivered by Karen. You can view the talk in full here.

June awareness dates

There are a number of health awareness dates in June linked to genetics and genomic testing. Below we have listed some of these, along with links to further information, as well as any associated test codes in the National Genomic Test Directory (R=rare, M=cancer, or with a reference to a group of tests e.g. Part IX).

Updates from the Genomics Education Programme

What Pharmacy Professionals Need to Know about Clopidogrel testing

The Road to Genome Podcast

Until now, scientists have believed that the genetics of children’s cancers are simpler than those in adults, with fewer changes between healthy cells and cancer cells. This view has been overturned by a study published last month in Nature Communications, which used some of the latest genetic sequencing technology to show that tumours in children could contain millions of genetic changes.

The study used samples collected from young children with Wilms tumour – a kidney cancer that largely affects children under the age of five. In the UK, about 85 children are diagnosed with Wilms tumour every year.

The research was co-led by Professor Sam Behjati, who will lead the Childhood Cancer Centre in the Cambridge Children's Hospital Research Institute. Dr Behjati said: "It has been a widely held belief that childhood tumours had much lower numbers of genetic changes than adult tumours. However, thanks to the development of new genomic sequencing tools, we have been able to show that, at least in these cases, it is not true".

This discovery could lead to new treatments and may mean that treatments currently only used for adult cancers, such as immunotherapies, could also deliver benefits for some children....Read the full story here.

• Lentiviral Gene Therapy for Severe Leukocyte Adhesion Deficiency Type 1 
• Infant with rare, incurable disease is first to successfully receive personalized gene therapy treatment
• Landmark UK study could lead to more effective treatments for people living with brain cancer
• Genomics England Research Summit: Revolutionising health through genomics

The aim of the series is to support and enable midwives, neonatal practitioners, maternity support workers and allied health professionals to start or continue their genomic medicine journey by hearing from midwifery experts in the use of genomics in maternity care. Some of the presentations will include case studies to illustrate the role of genomics in personalised maternity care and its importance in improving outcomes. You can find out more here, where you can also watch a session delivered by our Lead Midwife, Jo Hargrave, on Exploring awareness of genomic testing at the initial midwifery appointment.

Events calendars of other organisations (A-Z)