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| WGS in Cancer pathway evaluation - request for feedback | |
NHS East Genomics - in collaboration with the Cancer Alliances for the East Midlands and East of England - is undertaking a formal service evaluation (audit) of the Cancer Whole Genome Sequencing (WGS) pathway to identify barriers preventing eligible patients from accessing or completing WGS testing, including issues around equity of access, sample coordination, clinical communication, and actionability of results.
Findings will inform practical recommendations to improve the service for both patients and healthcare professionals.
If you work in one of the following areas we would be grateful if you could spend 5-10 minutes providing your responses to the relevant survey: | |
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On 6 May Genomics England announced the seventh major update to the NHS Genomic Medicine Service (GMS) panels. 139 NHS GMS panels have been signed off in this update, comprising 56 WGS and 83 non-WGS panels. See full details of the PanelApp update here. You can find out more about the new superpanel called Adult-onset neurological disorders on our website here. | |
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| Updated national genomics forms | |
Genomics forms managed nationally by NHS England, including order forms for whole genome sequencing (WGS), have been updated (6 May 2026). Please always check you are using the current versions.
The updated forms include: The changes are intended to improve experience when completing forms electronically and align with the recent national genomic test directory (NGTD) updates. They have been informed by extensive national consultation with requesting clinicians. You are encouraged to complete form electronically where possible. Full functionality requires use of Adobe Reader or Acrobat software.
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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 21 May and the end of Monday 25 May
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| Urgent Rare Disease testing | |
Urgent rare disease genomic tests are delivered by the NHS Genomics Medicine Service for prenatal testing and specific postnatal clinical Indications, for example - R14 Acutely unwell children with a likely monogenic disorder.
East Genomics will prioritise genomic testing in the following circumstances: - Diagnostic tests in infants less than 6 months old.
- Diagnostic tests for children with deteriorating or progressive disease.
- Diagnostic tests for children where their mother is pregnant and a result will impact on management of the pregnancy.
- Diagnostic tests where a result will have an impact on the type of planned surgery. For example, contralateral risk reducing mastectomy is being considered in a patient with newly diagnosed breast cancer.
- Diagnostic tests where the result determines eligibility for NICE approved PARP inhibitor treatment (R444.1/2).
- Any test, diagnostic or predictive, where a result will provide an immediate change to urgent treatment and/or clinical management of a patient. Please state the treatment options under consideration.
If your patient meets one or several of these criteria, please indicate on your test order form that urgent testing is required and provide the reasoning. See our website for more information about urgent and semi-rapid rare disease genomic testing
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| Our Inherited Cancer Team Lead on her retirement | |
Almost 30 years after starting her career as a trainee molecular geneticist, our inherited cancer team lead, Kim Oakhill is retiring. We would like to take this opportunity to thank Kim for all her excellent work over the years and for helping to train, inspire and motivate others who follow in your footsteps. We asked her to reflect on her career and the huge changes in the field of genetics during that time. Read our interview with Kim here. | |
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| Job opportunity: Technical Programme Training Manager | |
Our Cambridge laboratory is looking for a HCPC Registered Biomedical Scientist or AHCS Registered Genetic Technologist to maintain our accredited workforce and support our technical teams with their ongoing development and career progression. The deadline for applications is 17 May. See the full job advert here. | |
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| Digitalisation of the National Genomic Test Directory – next webinar 21 May 2026 | |
The national team behind the digitisation of the Genomic Test Directory are hosting a webinar on Wednesday 21 May 2026 at 13:00, which will give an overview of the digitised Test Directory, including an introduction to the platform, live demonstration and Q&A. This webinar is for clinicians who order genomic tests. You can register for the webinar here.
This follows a previous webinar on 21 April. The recording, including the slideshow and answers to frequently asked questions, are now available on the GMS NHS Futures pages here. Try the platform and share your feedback The new NGTD is now in its live testing phase. The national team are encouraging all colleagues to explore the platform and try searching for tests and clinical indications you currently order. You can access the digitised National Genomic Test Directory here and access a User Guide here.
Your can provide feedback to help the team improve the platform ahead of its full launch in October 2026. To share your thoughts, please use the feedback button in the bottom left-hand corner of the platform. The team are particularly interested to know what is working well, anything that is unclear, and to receive suggestions for new features that would be helpful.
See our website for more information. Please continue to use the existing Test Directory spreadsheets alongside the new platform until the full launch in October 2026. | |
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| Spotlight on Haemoglobinopathies | |
International Thalassaemia Day - 8 May
Thalassaemia is a genetic blood disorder that affects the body’s ability to produce healthy haemoglobin. To mark International Thalassaemia Day we are sharing details of the National Thalassaemia e-Learning Programme, which has been designed to equip healthcare professionals with the essential skills to provide high-quality, patient-centred care for those living with thalassaemia.
The programme is structured into three modules, centred around patient voice: - Module 1: Clinical Aspects – Genetic basis, pathophysiology, and clinical management.
- Module 2: Psychological Wellbeing – Emotional impact, coping strategies, and effective communication.
- Module 3: Complications & Future Advances – Iron overload management and emerging treatments
Sickle Cell Sickle cell trait is common in the UK, yet many carriers receive limited information after newborn screening – leaving gaps when they later need reproductive, clinical, or family guidance.
To help close this gap, NHS England has developed the Sickle Cell Clinical Pathway Initiative (CPI): a structured, flexible competency framework that supports healthcare professionals to deliver consistent, culturally sensitive care. Register to join us in this webinar designed for GPs, midwives, nurses, health visitors, community teams and anyone involved in screening or supporting individuals and families affected by sickle cell. You can find out more about the Sickle Cell CPI at a webinar on 21 May. | |
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Report on first year of national Genomic Lunch & Learn series | |
In 2025/26 the seven regional Genomic Medicine Services got together to deliver a monthly Lunch and Learn series for nursing and midwifery staff. The aim was to raise awareness of the National Genomic Test Directory and how genomics aligns to Nursing and Midwifery, foster dissemination of knowledge and best practice among participants, highlight national and regional resources enhance professional development ensure sessions were effectively and consistently delivered.
Last year ten Lunch and Learn sessions were delivered by the regional lead nurses and midwives, attended by 1,575 healthcare professionals across the country, with a further 1,208 people having viewed session recordings. Among the topics covered were: The Generation Study, Cardiac Genomics, Consent Ethics and Research Essentials, Huntingdon's Disease, and Respiratory Genomics, You can watch the recordings here. | |
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Central and South Genomics produces Generation Study video for Tamil speakers | |
Central and South Genomics have created a video explaining the Generation Study for Tamil speakers. This can be viewed via the link below, and comes with accompanying leaflets for English and Tamil speakers. Find out more here. | |
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| Single-molecule cfDNA sequencing establishes clinical utility for ecDNA monitoring and multimodal liquid biopsy analysis | |
Cell-free DNA (cfDNA) profiling enables minimally invasive cancer detection and monitoring. Researchers present SIMMA, a low-input single-molecule sequencing approach that enables multimodal whole-genome and high-depth targeted sequencing of the same cfDNA sample for both tumour-agnostic and tumour-informed liquid biopsy analysis.
Across 792 plasma and cerebrospinal fluid cfDNA samples from 277 paediatric patients with diverse brain and extracranial tumours, SIMMA enabled tumour diagnosis, detection of driver mutations, and reconstruction of extrachromosomal DNA (ecDNA) months before clinical relapse. Using conformal prediction trained on genome-wide fragmentomics, genomic and epigenomic data, SIMMA predicts disease burden as a continuous variable and provides well-calibrated uncertainty estimates for each sample, achieving a limit of detection of ~100 ppm from lowpass whole-genome sequencing data.
In summary, SIMMA establishes the clinical utility of multimodal cfDNA profiling with uncertainty quantification for individual patients and unlocks the potential of ecDNA as a liquid biopsy biomarker for disease detection and monitoring across diverse aggressive malignancies. Read the full paper here. | |
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| Somatic and germline genetic testing pathways in haematological malignancies | |
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 paper authors include Beverley Speight, Genetic Counsellor in the East Anglian Medical Genetics Service (CUH) and Anna Godfrey, Clinical Consultant in the Department of Haematology, CUH. Find out more here. | |
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| Genomics England seek researchers for Research Network Leads | |
Genomics England is seeking Senior Researchers and Early Career Researchers to apply as Research Network leads who can strengthen their communities and help drive strategic research areas. Roles are currently available in the following communities:- Genotype-Phenotype Association
- Implementation and Data Enhancement
- Pan‑Cancer & Molecular Oncology
- Predisposition and Screening
- Therapeutic Innovation and Trials
Applications close Monday 26 May, 11:59 PM. You can find out more on the Genomics England website 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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Genomics and counselling skills course | |
Clinical healthcare professionals keen to develop their knowledge of genomics are invited to apply for a popular introductory genomics counselling course, with the opportunity to extend their studies to a Postgraduate Certificate (PGCert) in Genomics. The course is delivered online through blended learning by the University of the West of England (UWE Bristol).
To support healthcare professionals in developing their understanding of genomics and in better supporting patients, UWE Bristol has developed this online course in collaboration with Macmillan Cancer Support, the British Heart Foundation, Genomics England, a range of NHS genomics specialists, and the NHS England Genomics Education Programme (GEP). Find out more here.
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Genomics Informed Medicines Optimisation webinars | |
Join PrescrQIPP and the NHS Genomic Medicine Service for an exciting new webinar series, designed to help healthcare professionals confidently integrate genomics informed medicines optimisation into everyday clinical practice.
These sessions will explain the background of the national genetic testing service, demystify the science, showcase real-world case studies, and provide practical guidance on using genetic insights to optimise medicines and improve patient outcomes. The sessions are as follows: - 19 May: Examples in practice, workforce strategy and approach to education
- 9 June: Applying genomics informed medicines optimisation
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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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| 21 May: Digitising the Genomic Test Directory | |
On 21 April, NHS England hosted a webinar on the launch of the new digital National Genomic Test Directory (NGTD) as it enters a live testing phase. The NGTD's launch marks a significant step forward in modernising the NHS Genomic Medicine Service.
When the new platform goes live it will replace existing spreadsheets with a user-friendly, searchable test directory, making it easier to find and access genomic tests and test packages. During the testing phase, the existing spreadsheets will remain available. This webinar was for clinicians who order genomic tests.
The webinar included a live demonstration of the platform and an opportunity to ask questions. The webinar recording is available to view for NHS colleagues.
The next webinar is due to be held on 21 May, which will cover similar content to the April session for those who couldn't attend, including an introduction to the platform, live demonstration and Q&A. This webinar is for clinicians who order genomic tests. You can register for the webinar here.
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| 2 June: The future of prescribing - Emerging themes in pharmacogenomics | |
Join Central and South Genomics for an exciting webinar on emerging themes and research in the field of pharmacogenomics.
Pharmacogenomics, the study of how an individual's genetic makeup affects their body's response to medicines, is of increasing importance in healthcare and emerging research demonstrates how it may be utilised further in the future. Pharmacogenomic testing can guide prescribing decisions to improve therapeutic effectiveness and prevent adverse drug reactions. Pharmacogenomic insights have also informed the identification of novel therapeutic targets and have supported the repurposing of existing drugs for novel applications.
This event is aimed at healthcare professionals with an interest in pharmacogenomics, particularly pharmacists and prescribers. Register your place here.
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| 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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| 16 June: East of England PPI Showcase | |
To celebrate 20 years of the National Institute for Health and Care Research (NIHR), teams from the East of England will host a Patient and Public Involvement showcase on Tuesday 16 June, 10.30am - 3.30pm at the Cambridge Biomedical Campus, This free event is a celebration of Patient and Public Involvement (PPI) in health research and the role it has to play, and is open to patients, carers, members of the public, researchers, students and anyone who would like to understand how research can be shaped by the publics voice. Find out more and register here. | |
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| 17 June: NIHR Bioresource Scientific Conference 2026 | |
The NIHR BioResource Scientific Conference 2026 takes place on Wednesday 17 June from 9:30am to 12:30pm. This free online event is open to anyone but aimed primarily at academic, industry and NHS researchers and research professionals, and will showcase academic and industry-led translational research across a range of disease areas and highlights the potential of working with the NIHR BioResource to access participant data, samples and recall by genotype and/or phenotype.
Visit the NIHR BioResource Scientific Conference 2026 website to find out more.
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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. | |
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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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| 16 July: Introduction to Genomics for Nurses | |
University of York This evidence-based CPD course is presented by Jodie Coulson, lecturer in prescribing and Medicines Optimisation at the University of York and author of Genomics for nurses: An introduction. The programme is suitable for any registered nurse, practicing in any setting, who wishes to extend their knowledge of genomics in relation to the nursing role, to enhance their practice and to better support student nurses to learn about genomics. Find out more and book your place here. | |
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| 18 Aug: Genomics for Educators | |
Online and in-person Educators of nurses, midwives, pharmacists and Allied Health Professionals (AHPs) are invited to join a 3‑day intensive “Genomics for Educators” course, delivered by education specialists, clinical geneticists, and nurse, midwife and pharmacist specialists from Central and South Genomics.
The course will take place over 3 days - in-person on 18 and 19 August at Birmingham Women's & Children's NHS Foundation Trust and online on 1 September and the course fee is £150+booking fees per person. Find out more and register your place here. | |
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| 15 Oct: AI in Healthcare Conference 2026 | |
The NHS 10 Year Health Plan sets out an ambition for AI to be integrated across clinical pathways, with wider use of generative AI across trusts.
The AI in Healthcare Conference 2026 will examine how AI is being implemented across the NHS focusing on what it takes to introduce tools safely into clinical workflows, manage governance and procurement, and responsible adoption across trusts. Delegates will gain insights into how to navigate common barriers including workforce challenges, data access, and confidence, and what responsible and effective use of AI looks like in NHS settings.
Find out more and book your place here. You can use the discount code 15OFF when booking. | |
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| 11-13 Nov: Training Course in Pharmacogenetics | |
This in‑person course in Manchester, supported by the European Society of Human Genetics (ESHG), is aimed at pharmacists, GPs and hospital physicians and nurse prescribers with an interest in pharmacogenomics. The programme will cover core PGx principles, clinical implementation, and practical case-based learning, delivered by national and international experts. Further details, including the programme, registration and fellowship information, are available here. | |
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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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If you would like to unsubscribe from these newsletters please email us | |
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