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| Holiday closures and 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 Wednesday 1 April and the end of Monday 6 April
At CUH, staff will be on-call to process urgent Haem-Onc samples during this period - for details see the link below. There is no on-call service for rare disease tests, which may delay processing of urgent samples. See the full update on our website here. | |
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| Expanded criteria for testing to inform adjuvant breast cancer PARP inhibitor therapy | |
New Cancer Drug Fund (CDF) guidance issued in January 2026 means more patients could be eligible for adjuvant treatment with combined Olaparib and hormone therapy. Aligned with this, eligibility criteria for genetic test R444 (NICE approved PARP inhibitor treatment) has been updated. Read the full update on our website. | |
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| Healthcare Science Week 2026 | |
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Healthcare Science Week (9–15 March 2026) is an annual chance to celebrate the vital contribution healthcare scientists make to the NHS and patient care every day. This year's theme is curiosity – the driving force behind the questions we ask, the discoveries we make, and the innovations that transform patient outcomes.
From Clinical Scientists and Genetic Technologists, to Bioinformaticians and Clinical Geneticists, there are a wide range of healthcare science roles within our genomic laboratories. Below you can read more about some of these roles: If you work in a healthcare science role and plan to celebrate during the week, please get in touch with our laboratory training manager, Francesca Tonini. You can read more about the range of healthcare science jobs within our labs here.
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| CUH Chief Exec visit to our Cambridge lab | |
Chief Executive of Cambridge University Hospitals (CUH), Nicola Ayton, visited our Cambridge laboratory last week ahead of Rare Disease Day on 28 February. CUH plays a key role at East Genomics as the Trust responsible for our regional service and home of our lead laboratory.
Nicola was shown around by our Operations Director, Amanda Clarkson, Clinical Director Dick Sandford and Scientific Lead for Rare Disease, Isabelle Delon. Nicola heard about our work providing testing in rare diseases and cancer for patients across the region. She was particularly impressed by the ways that our work helps to improve treatments and address the rare disease diagnostic odyssey, and noted the key strategic role we have in delivering the future vision for the NHS across the region and nationally. You can watch a short clip of Nicola and her reflections on the visit. | |
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National Cancer Plan launched | |
On World Cancer Day (4 February) the Government published the National Cancer Plan. While more people survive cancer than ever before, progress has slowed over the last decade and England still lags behind other comparable countries in terms of survival.
The Plan - which includes a new inherited cancer genomic database - will fully modernise the approach to cancer care in England. The National Cancer Plan has been developed through extensive engagement with patients, partners and professionals.
Patients were clear in what they wanted to see: core performance standards improved, to be offered the latest and most innovative treatment backed by the latest research, and to be supported to live well with cancer.
For the first time, the NHS will commit to ensuring three in four people diagnosed with cancer from 2035 onwards are cancer-free or living well after five years. This translates to 320,000 more lives saved over the lifetime of the plan. 
Genomics is key enable to achieving the aims of the Plan. Through the NHS Genomic Medicine Service, genomic testing is already offered where it provides clear clinical benefit, and the 10 Year Health Plan sets out a clear ambition to embed genomics more routinely across care pathways. Read more about the National Cancer Plan here. | |
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| Supporting clinicians around whole genome sequencing for Teenage and Young Adult (16-25) cancer patients | |
Whole Genome Sequencing (WGS) is available through the NHS Genomic Medicine Service for all patients aged 25 and under with confirmed or suspected cancer, or sarcoma of any age.
We have been working with our Patient and Public Voice (PPV) Panel and colleagues in our Genomics laboratories and two regional Operational Delivery Networks for CTYA cancer to improve the support and guidance around WGS for cancer patients in the 16-25 age group.
Our new web page includes: - Key benefits of Whole Genome Sequencing for Cancer
- Eligibility: Who should be considered for WGS?
- Tools and resources
- Multidisciplinary Teams and Genomics Community of Practice
- Consent and Pre-test discussion
- Ordering a Solid Cancer WGS test: Referral process, guidance for completing a WGS test order form, RNAlater (samples not requiring freezing)
- Test Turnaround Times
- Interpreting test results and integration into care
- Cancer WGS FAQs
- Patient information and support
Please see our new web page here. If you have any feedback on the information and resources included on this page, or would like to discuss how East Genomics can provide further support or training around WGS for TYA cancer patients, please contact our Communications Lead Ian Kingsbury. | |
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Rare Disease Day took place on 28 February this year, with many organisations putting in events, webinars and awareness raising activities in the week leading up to it. Here is a roundup of activities and announcements across the East region, and nationally, including links to webinar recordings:
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| A mother who inspired a generation with her fight against breast cancer before dying at 43…and the story from her daughter who shares the same gene | |
When she died of breast cancer aged only 43, amateur athlete and fundraiser Jane Tomlinson left a number of incredible legacies – including a charitable appeal which has raised over £10million.
But perhaps the most important legacy was one that the NHS radiographer and mother of three from Leeds kept to herself and her family. Before her death in 2007, Jane asked doctors to take a sample of her blood to be used by her family – to allow them to check for genes that raise the risk of cancer, particularly for faulty BRCA genes linked to breast cancer. Jane was never tested because, for her at least, it was too late. She was diagnosed with breast cancer aged 26 and had a mastectomy. In her 30s, the cancer returned – this time having spread to her bones, by which time it was terminal.
However, Jane wanted to ensure that her family could have the chance to find answers that could affect their own health. Today, her three children – and three grandchildren – are benefiting from that foresight. Read the full story here. | |
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| GeNotes Immunology collection launched | |
Clinical immunologists are invited to access GeNotes Immunology: a comprehensive new set of 50 free educational resources designed to help them confidently integrate genomic medicine into everyday practice. Developed by NHS England’s Genomics Education Programme in collaboration with clinical experts from across the NHS, the collection covers a wide spectrum of genomics education, from when and how to order genomic tests to the underlying genomics at play in rare hereditary conditions. | |
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| Update from East of England Cancer Alliance - Regional Genomic Service | |
Established in 2024, the East of England Cancer Alliance Regional Genomic Service has evolved to successfully support numerous testing pathways across the region, building strong and valued working relationships with colleagues throughout the network. They have a small team of Genomic Practitioners who can provide support and education for cancer teams to learn how to mainstream test patients themselves. Please be aware that they are unable to take clinical referrals for direct testing.
As the Service enters it's third year, the team remain fully committed to delivering the robust genomics agenda clearly outlined in recent national policy and to continuing their support for high-quality, equitable genomic services across the region.
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| Generation Study helps detect baby's rare growth condition | |
| Last month we shared a case study of a family in Leicester who took part in the Generation Study, and this month we're pleased to bring you the story of a Cambridge baby’s positive response to treatment after her rare genetic condition was diagnosed following results from this national screening study. | | | |
Safi Ford from Cambridgeshire had her genetic code analysed through the Generation Study, a programme looking at the effectiveness of using whole genome sequencing to find 200 rare genetic conditions in newborn babies.
Doctors in Cambridge diagnosed Safi with isolated growth hormone deficiency (IGHD), meaning she was able to start treatment early. Now 13 months old, Safi is catching up with other children her age and has grown 15cm since starting treatment. If treatment continues, her adult height is expected to be within a typical range and unaffected by IGHD. Read the full story here. | |
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GOSH to connect health data for rare disease research | |
Great Ormond Street Hospital for Children NHS Foundation Trust (GOSH) is partnering with charity LifeArc to connect health data which could help advance rare disease research.
Rare disease health data is often fragmented and disconnected due to small numbers living with the conditions, which can hold back research. The partnership will set up KidsRare, an initiative to help deliver more tests and treatments for children living with rare disease.
It aims to drive the secure use of health data to develop insights and breakthroughs that could boost rare disease research and help the thousands of children diagnosed with rare diseases every year in the UK. Read more here. | |
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| Patient Kidney Research UK: Looking forward to 2026 | |
This year, researchers funded by Kidney Research UK are making progress in projects aimed at transforming the lives of people affected by kidney disease. They’ve spoken to some of these researchers to hear the latest updates on their projects; what they have achieved so far and what they are most looking forward to in the year ahead. Read more 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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| National Genomics Lunch & Learn series | |
The 2025/26 run of national Genomics Lunch and Learn webinars concluded this month with a session on Respiratory Genomics - Familial Pneumothorax: Genomic Insights for Clinical Practice. You can watch the recording here.
You can also see our website here for recordings of previous sessions. Details of sessions planned over the coming year will be added to our website and shared via this newsletter. | |
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11 March: HSJ Health SHIFT 2026 – Advancing Genomics, Diagnostics & Cancer Care | |
We're pleased to update that Dr John Tadross, Consultant Pathologist and Molecular Pathology Clinical Lead for the East Genomic Laboratory Hub, will chair a roundtable session on Mainstreaming cancer genomics into routine pathways at the upcoming Health SHIFT: Early Intervention Genomics event on 11 March 2026. | | | |
This is one of three related events taking place in London on 11 March. You can see full agendas and register to attend via the links below: | |
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| 23 March: Health Data for Discovery | |
11.30am - 5.30pm, Babraham Research Campus, CambridgeIf your research involves NHS patient data, you may be facing familiar challenges: Difficulty sourcing and accessing the data you need Lengthy and complex governance processes Limited options for collaborating securely across teams or organisations
Health Data for Discovery is an event designed to help address these challenges by introducing the Eastern England Secure Data Environment (SDE) - an NHS-owned platform that enables approved researchers to securely discover, access, analyse and collaborate on de-identified health data in a secure environment.
The event will explain, in practical terms, how the Eastern England SDE can support health research, including: How researchers can apply once to access data from multiple NHS organisations How federated cohort discovery can support studies and trials How the platform provides a secure space to collaborate on sensitive data without it needing to be moved.
If you’re interested in learning how this could support your research, register your interest to attend the event here.
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| 25 March: Joint Nurses and Midwives in Genetics and Genomics meeting | |
Connecting across nursing and midwifery teams, with updates on current priorities, our next meeting takes place on Wednesday 25 March 2026, 12pm - 1.30pm, shines a Spotlight on Genomic Insights in Mental Health and features three talks: - Bipolar disorder and postpartum psychosis: Exploring the genetic link – Jessica Yang Research Assistant, Division of Psychological Medicine and Clinical Neurosciences School of Medicine Cardiff University
- From First concerns to Shared Understanding: Communicating Rare Disease - Jo Balfour, MD Cambridge Rare Disease Network (CamRARE)
- Mental Health and Genomics: Implementing evidenced based practice and reducing health inequalities - Nicole Eady Consultant Psychiatrist in Intellectual Disability and Mental Health Lead for North Thames GMSA
Find out more and register your free place here.
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| 25 March: Driving Change through England's Rare Diseases Action Plans | |
The British Society for Genomic Medicine (BGSM) continue their monthly ‘Lunch and Learn’ series, with an online session on Wednesday 25 March (12.30pm - 1.30pm) on the fifth England Rare Diseases Action Plan which was published on 27 February 2026.
Kath Bainbridge, Head of Rare Diseases and Emerging Therapies, Office for Life Sciences, DHSC will reflect on progress over the last five years and what should follow when the Framework expires in January 2027. To register, and for more information, please visit the event page. If you are unable to attend and have questions you would like to submit in advance please send them to events@rsb.org.uk.
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| 27 March: Preconception Precision Health - Integrating Genomics for Optimised Maternal Outcomes | |
9am - 5pm, Woburn House Conference Centre, London
Join our colleagues at the North Thames GMS for a free educational event designed for NHS healthcare professionals involved in, or who have an interest in maternal health and preconception care, focusing on optimising maternal outcomes and how the latest advancements in genomic testing are improving patient care.
The programme will include expert speakers in preconception care, maternal health and genomics, including sessions on prenatal care, cardiac disease, epilepsy, sickle cell disease, pregnancy with a rare disease in the family, considerations for pregnancy with a cancer gene in the family, primary care and genetic counselling.
Please visit the event page to find out more and register.
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| 11 May: Breast Cancer Now’s Healthcare Professionals Conference 2026 | |
Breast Cancer Now’s one-day conference is your opportunity to step back and explore topics and themes impacting breast cancer care with your peers. Attendees will hear exciting clinical updates, as well as plenary sessions on hot topics in breast cancer treatment and care. Interactive breakout sessions will cover best practice examples, information on support for your patients, and educational content you can apply in your role. This is also a chance for Breast Cancer Now to thank and support the healthcare professionals hub members, in a space designed to foster innovation, inspiration and inclusion. Find out more and register 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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| 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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| 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 East Genomic Laboratory Hub (East GLH) at cuh.geneticslaboratories@nhs.net
- Enquiries in relation to projects, mainstreaming, pathway development and wider education, training and and engagement should be directed to the East Genomic Medicine Service Alliance (East GMSA) at egmsa@nnuh.nhs.uk
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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