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| April updates to the National Genomic Test Directory | |
The latest major update to the national genomic test directory (NGTD) has been published.
Rare Disease Includes numerous changes to rare disease tests including for developmental disorders, neurological conditions, inherited cancers, expanding access to PARP inhibitor treatment in breast cancer and karyotype analysis. Find out more on our website.
Cancer In preparation for the digitisation of the national genomic test directory, the April 2026 update includes a new structure for haematological and neurological cancers, which is being piloted ahead of a move to a digital NGTD being developed by NHS England. As part of the move, neurological cancers have been brought together with other tests into a new category referred to as central nervous system (CNS) cancers. Other changes in this update are for DPYD pharmacogenetic and urothelial cancer testing. Find out more on our website. | |
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We have a new form for DPYD genetic testing. Our Cambridge lab provides DPYD testing for East Genomics. To ensure a rapid service, please submit samples directly to the laboratory by first class post or courier. You can find our new DPYD test order form on our website here. | |
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| Holiday closures & testing arrangements | |
Our laboratories will be closed during the upcoming bank holidays, please be aware of these arrangements when sending samples for testing.
Outside of routine courier collections, please do not arrange deliveries to arrive between: - 12 noon on Thursday 30 April and the end of Monday 5 May
- 12 noon on Thursday 21 May and the end of Monday 25 May
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| Marking Healthcare Science Week | |
Last month members of our Cambridge lab marked Healthcare Science Week by coming together with other labs at Cambridge University Hospitals to raise awareness of the many diverse clinical scientist roles that play a key role in diagnosing and finding the right treatments for diseases. Visit our careers page to learn more about working in genomics. | |
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| Job opportunity: Principal Clinical Scientist - Rare Disease | |
Our Cambridge lab is seeking to recruit a Principal Clinical Scientist (Band 8a) to lead on delivering a high-quality, patient-focused service, working in close collaboration with clinical colleagues and technical teams. See the full job advert here. Closing date for applications is 21 April. | |
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| New cancer genomics patient information leaflets | |
Our East region Cancer Genomics Patient Information Collaborative continues to produce more patient information leaflets which we are adding to our website here.
Leaflets that have been added recently, and which are available for sharing with patients as appropriate, include: | | | |
If you would like more information about Cancer Genomics patient information, or to discuss any local Trust requirements, please contact project lead Claire Searle. | |
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| UK study highlights “fragile trust” in healthcare among Black communities | |
A major UK report has found that trust in healthcare and clinical research among Black communities is strong at a personal level but remains fragile overall, shaped by inequality, past experiences and inconsistent care.
The study, led by Prostate Cancer Research and supported by AstraZeneca, combined polling of more than 1,000 Black British adults with expert interviews and community workshops. It paints a mixed picture: while most respondents said they feel respected and listened to by healthcare professionals, nearly one in three reported avoiding care after a negative experience.
Researchers found that trust is often placed in individual clinicians rather than in the healthcare system itself. Many participants described good one-to-one care, but said wider issues, such as delayed diagnoses, poor communication and perceived bias, undermine confidence over time.
Professor Julian Barwell, Consultant Clinical Geneticist at University Hospitals of Leicester, who provided input to the report and who previously led our United Against Prostate Cancer project, said: "Local voices and partnerships in healthcare can help improve equity in participation in research but we will also require informed and bold policy decision-makers to understand what drives equitable access to 21st century healthcare and take positive and sustainable action that impacts on every day clinical practice". Find out more here, including a link to the full report. | |
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| Our Generation Study Results Coordinator leads on new infographic for Health Visitors | |
The Institute of Health Visiting (IHV) are working with Genomics England to support health visitors’ awareness of the Generation Study – a research study run in partnership with NHS England that is testing newborn babies for more than 200 genetic conditions.
As part of this project, titled “Realising the potential health visiting teams have to support babies, children and families participating in the Generation Study”, the IHV have created a brand-new infographic to provide a short resource for all members of health visiting teams
The idea behind this infographic came from Lauren Capacchione, Midwife and Regional Results Coordinator for the Generation Study at East Genomics. Lauren, the iHV and Genomics England worked together with health visiting teams in the East GMS to develop this, and we are really grateful for those health visiting teams’ support. Find out more, including a link to the new infographic.
Nationally, the Generation Study has reached a significant milestone. Over 50,000 babies have now been enrolled onto the study, meaning Genomics England and participating trusts have now recruited over half the cohort.
Multiple trusts in the East region have contributed to this effort, and between them our regional teams have recruited around 20% of the national total, which is a huge achievement and testament to their hard work and dedication.
Regional maternity teams at Generation Study 'Together to 100k event Last month Trust maternity teams from across the country came together to learn from each other, explore innovative approaches to recruitment and consent, and discuss the real-world impact of genomic sequencing through compelling case studies.
It was a great chance to learn some best practice from other sites and hear about the many examples of families and babies who have had a rare condition diagnosed almost immediately after birth and who have been able to access specialist care pathways and treatment. | |
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| UKCPA launches Handbook of Pharmacogenomics to support the use of pharmacogenetic results to optimise medicines | |
The UK Clinical Pharmacy Association (UKCPA) recently launched a new, freely accessible, resource to support healthcare professionals with evidence-based advice and guidance on the use of pharmacogenetic results to optimise medicines.
The UKCPA Handbook of Pharmacogenomics is built in a simple and easy to use format, distilling information compiled from a range of sources and from the clinical experience of pharmacists and healthcare professionals with expertise in pharmacogenomics.
Dr Sarah Carter, UKCPA CEO, stated: “The Handbook is only going to get more necessary as more genetic tests become available on the NHS, and patients are presenting with this information.” | |
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| Guidance on blood cancer genetic testing updated following national consensus meeting | |
A recent publication in the British Journal of Haematology shares updated best practice consensus guidance for genetic testing in haematological malignancies. It covers both somatic and germline testing.
The guidance particularly highlights the utility of distinguishing the role of inherited germline genetic variants from somatic variants, which can play a role in prognosis, disease management and inform appropriate donor selection where transplants are required.
The updated guidance follows a 2025 meeting that brought together Haematologists, Clinical Geneticists and representatives from NHS Genomic Medicine Service labs.
In total, the guidance includes 43 best practice consensus statements spanning areas such as MDT working and management of genetic variants, myeloproliferative neoplasms and the genes TP53 and DDX41. The guidance has been produced by the UK Cancer Genetics Group (UKCGG), alongside CanGene-CanVar and the NHS England Haematological Oncology Working Group. Find out more on our website. | |
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| Study explores role of somatic mutations in autoimmunity | |
Researchers in Cambridge have found evidence linking genetic changes that occur throughout our lives to autoimmune diseases, where cells from the immune system attack healthy cells.
Published this week in the journal Nature, the study reveals how somatic mutations – genetic changes that occur throughout our lives – contribute to autoimmune diseases in the thyroid gland. The discovery is expected to be relevant to other autoimmune conditions including rheumatoid arthritis, multiple sclerosis, lupus and type 1 diabetes.
In total, autoimmune diseases affect up to 1 in 10 people. This work confirms a long-held theory about the origins of autoimmune diseases and, with further research, could lead to new ways to prevent and treat these conditions. The research involved clinicians from Cambridge University Hospitals NHS Foundation Trust (CUH), working with scientists at the Wellcome Sanger Institute, Institute of Metabolic Science (IMS) at the University of Cambridge, and colleagues. It was made possible thanks to the generosity of patients, many at CUH, who consented for their samples and data to be used for research.
Dr John Tadross, author on the paper and East Genomics molecular pathology co-lead, said: "Despite their huge impact on people’s health, there is still a lot we don’t know about autoimmune diseases. This work confirms something we’ve long suspected but haven’t had the technology to prove. It’s a key step towards better, more targeted ways to treat people with these conditions, so they can have a better quality of life". Read the full story on our website. | |
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| Researchers develop breakthrough test for womb cancer | |
A pioneering new blood test to detect endometrial cancer has been developed by Gynaecological cancer experts at the University Hospitals of Leicester NHS Trust and University of Leicester.
The ECctDNA test looks for fragments of cancer in patients’ blood. It makes it easier and far less invasive to detect whether cancer has recurred. It also removes the need for patients to have to undergo physical examinations, scans and potentially uncomfortable biopsies.
Experts at the University Hospitals of Leicester NHS Trust and the University of Leicester have developed the test over the past eight years. The test was trialled as part of a study which recruited more than 85 women with endometrial cancer.
Dr Esther Moss, Consultant Gynaecological Oncologist at the University Hospitals of Leicester NHS Trust, led the study. She said: “We have been able to develop a blood test that can not only diagnose womb cancer recurrence more quickly but can avoid the need for confirmatory invasive biopsies. It can also give important information to the clinical team on the genetic changes that are driving the cancer to recur, which could be used to guide patients’ further treatment’.
Pippa Clarkson, 65, was diagnosed with endometrial cancer nearly nine years ago. She had a full hysterectomy via keyhole surgery, followed by radiotherapy and has received regular check-ups since then.
She took part in the trial and said: “Being diagnosed with cancer really hit me hard. I think I hid away for a few months and just tried to deal with it inwardly. The procedures for diagnosis and biopsies are incredibly invasive, but obviously you do what you have to do. I’m incredibly grateful to all the medical team and Dr Moss for their expertise. I’m cancer free and so being part of the trial was something I could do to show support. If this means that women like me don’t have to go through further invasive procedures then it’s all worth it.”. Read the full story here. | |
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Events, education and training | | |
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| Upcoming Communities of Practice | |
Here are some upcoming meetings, with registration links, for our Genomics Communities of Practice: | |
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| 27-28 April: AGNC Conference 2026 | |
Leonardo Royal Hotel, Oxford The Association of Genetic Nurses and Counsellors (AGNC) are holding their 2026 Conference in Oxford on 27th and 28th April with a theme of 'One Team: Exploring Professional and Clinical Issues through the Lens of Team Culture and its Link to Clinical Safety'.
We're please to report that a number of colleagues from our region will be presenting sessions and posters, including : - Demi Blair, who led on our 'Genomic services in maternity bereavement care' project
- Lauren Capacchione, our regional Generation Study Results Coordinator
- Anna Hemlsey, STP Trainnee Genomic Counsellor in the LNR Clinical Genetics Service, who is presenting on healthcare professionals' perspectives on ethical and practical issues associated with newborn genomic screening.
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| 28 April: Bowel cancer and genomics: What healthcare professionals nee to know | |
Join Central and South Genomics at an insightful webinar on 28 April to mark Bowel Cancer Awareness Month.
Cancer is affected by our genetics in many different ways. Multiple cancers can be influenced by our genes and the effectiveness of cancer treatment can vary according to our DNA. The healthcare environment has responded to emerging research findings by offering new testing options and innovative therapies based on the results of genetic testing.
At this informative webinar, attendees will hear from a panel of experts including Professor David Church, Cancer Research UK Senior Cancer Research Fellow and Honorary Consultant in Medical Oncology, on a range of topics including: - The connection between genomics and bowel cancer
- The testing process
- Emerging research findings
- Lynch Syndrome
Register your place here. | |
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| 18 May - 7 July: Virtual Cancer Genetics Course | |
This virtual course, run by Guy's and St. Thomas' NHS Foundation Trust, will teach the core concepts of risk stratification using family history as a tool to enable patients to access appropriate management strategies.
The course is designed for all healthcare professionals working in primary care and specialist settings including oncology, breast care, gynae-oncology, gastroenterology and screening services.
Participants will be equipped with the basics of cancer genetic counselling and sessions will include approaches to genetic testing, management of hereditary cancers and consent taking. If you are looking to start mainstream genetic testing or learn about family history assessment you will benefit from a step by step approach to learning and application to practice.
The course fee includes access to their Nucleus online modules ‘Cancer Genomics: The Essentials’ and the recently launched ‘Consent Conversation.’ Find out more and register via the course website. | |
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| SAVE THE DATE: 4-5 June: Association for Clinical Genomic Science Conference | |
The ACGS Summer Scientific Meeting will be held from Thursday 4th to Friday 5th June 2026 at the ICC, Birmingham. The meeting promises to be a a dynamic and collaborative conference, bringing together colleagues from across UK Genomic Medicine for two days of scientific exchange, networking, and shared learning. Details regarding abstract submission and registration will be circulated soon. Georgina Corfield, Head of Technical Programme at our Cambridge lab, will be speaking at the event.
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| 12 June: Genomics and Mental Health Research Day | |
Newnham College in Cambridge Organised by the University of Cambridge MRC Cognition and Brain Sciences Unit, in partnership with the NHS Genomics and Mental Health Network of Excellence and CANDDID, the day will focus on “Rare Neurodevelopmental Conditions​ - meeting the post-diagnostic challenges​” and will showcase and discuss diverse mental health related research involving rare genetic communities.
  A preliminary schedule, featured speakers, venue/travel information, and registration link can be found here: Genomics and Mental Health Research Day 2026. | |
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| 19 June: MakeFest 2026 - Facility Day | |
Cambridge The SMCL NGS Hub Facility Day 2026 is a flagship open event showcasing the services, technologies and expertise of the SMCL NGSs Hub — the academic research facility within the Department of Genomic Medicine, School of Clinical Medicine, University of Cambridge.
This event is primarily aimed at research technical professionals, defined as staff working in UK academic research facilities, as well as undergraduate and postgraduate students. It is also open to scientists, clinicians, and anyone interested in learning more about the services and collaborative opportunities offered by the SMCL NGS Hub.
Visit the event page to find out more and access the registration form. | |
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| 23 June: Genomics England Research Summit 2026 | |
Business Design Centre, London Registration is now open for the Genomics England Research Summit 2026. This in-person event will bring together leading experts, researchers, and clinicians from the genomics community to explore the breakthroughs shaping clinical care today and the innovations that will define the future. You can register your place here and submit a poster abstract here (deadline 20 March). | |
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| 30 June: Heart UK's 39th Annual Medical & Scientific Conference 2026 - Advancing CVD Prevention | |
30 June - 2 July, East Midlands Conference Centre, Nottingham Heart UK are pleased to share details of the leading conference for medical, scientific, healthcare and student attendees with an interest in lipids, atherosclerosis, cholesterol conditions, cardiovascular disease and nutrition and involved in primary and secondary care or industry.
See the Conference website for details of the programme and to register your place. | |
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| Events calendars of other organisations (A-Z) | |
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New on our website:
Genomic Testing: | | Useful links and resources | | | |
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- Enquiries regarding any specific genomic tests should be directed to our lead lab at Cambridge University Hospitals: cuh.geneticslaboratories@nhs.net
- Enquiries in relation to projects, mainstreaming, pathway development and wider education, training and and engagement should be directed to: cuh.egmsa@nhs.net
To share future newsletter content or suggestions please email Ian at i.kingsbury@nhs.net.
If you have been forwarded this email by a colleague and would like to be on our mailing list, please register here. | |
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