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| East leads on equitable access to genomic testing for cancer patients | |
A service pioneered by East Genomics and Addenbrooke’s Hospital could help up to three times more cancer patients benefit from whole genome sequencing (WGS).
The service has just won a national award and been accredited for use across the UK. WGS is a cutting-edge genetic test that is available on the NHS to inform diagnosis and treatment for many cancers, particularly those that are complex or hard to treat. The results can identify patients who will benefit from targeted treatments and access to clinical trials.
Until now, tumour samples for WGS needed to be collected and rapidly frozen, which requires specialist facilities that are not available at all hospitals. Samples also had to be kept frozen for transport, increasing financial and environmental costs. The service provides clinicians across the region with easy access to a liquid preservative that means tumour samples can be collected at any hospital in the region at any time and sent to Cambridge University Hospitals NHS Foundation Trust (CUH) without the need for freezing.
Dr Tadross and colleagues that led this innovation were presented with the Royal College of Pathologists Achievement Award 2026 for Sustainability at a ceremony in London on 17th June, in recognition of the environmental benefits of transporting samples without the need for freezing. | |
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Circulating tumour DNA (ctDNA) testing for Cancer of Unknown Primary | |
As part of the July 2026 update to the National Genomic Test Directory for Cancer, new liquid biopsy (circulating tumour DNA; ctDNA) tests for Cancer of Unknown Primary have been added.
Testing will be provided in the East region by North Thames Genomic Medicine Service and, as with other ctDNA tests, should be ordered directly. The new panel tests can be ordered from East Genomics as usual and include a range of relevant genetic variants. They are intended to provide a faster result than whole genome sequencing (WGS) that still has potential to inform clinical management.
See our website for the full update, including eligibility criteria, information about the test and referral pathway from a webinar earlier this month, how to order kits, and the test referral form.
Related resource The East of England Cancer Alliance have created a learning module following the journey of a patient with cancer of unknown primary (CUP) as they access whole genome sequencing (WGS) through the NHS Genomic Medicine Service. Learners travel the full pathway alongside the patient - from the multidisciplinary team (MDT) meeting where the need for WGS is recognised, through consent and the germline sample, the biopsy in radiology, the handling of fresh tissue in the histopathology department, processing at the Genomic Medicine Service (GMS), and interpretation of the results, to the Genomic Tumour Advisory Board (GTAB) where findings are discussed and a treatment plan is agreed. You can sign up to request access to the module here. | |
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| National Cancer Test Directory Update - July 26 | |
Further to the ctDNA testing for Cancer of Unknown Primary update (above), there have been a number of further updates to the National genomic Test Directory for Cancer this month, including all endometrial cancers are now eligible to be assessed for POLE variants and a high sensitivity test for JAK2 V617F variants in patients with myeloproliferative neoplasms (MPNs) is now available. Please always consult the current National Genomic Test Directory when ordering testing.
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| Reminder re. sample requirements | |
We have recently received a larger than usual number of unsuitable blood samples. To avoid recollecting samples and delays to results, please ensure you are familiar with the sample requirements page on our website when ordering sample collection. | |
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There are currently delays in testing for facioscapulohumeral muscular dystrophy (FSHD) type I due to a supply issue. All orders for this test are sent to the South West Genomic Medicine Service (GMS) as the designated national providers who have notified us of this issue.
You should continue to order tests via East Genomics as usual and we will work with South West GMS to ensure they are processed as soon as possible. As always, urgent testing will be prioritised based on clinical need. FSHD type 2 testing is not affected. See the full update from SW GMS. See the full update from SW GMS. | |
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| R445: Non-Invasive Prenatal Testing (NIPT) resources now available | |
R445 is the clinical indicator code in the National Genomic Test Directory offering non-invasive pre-natal testing (NIPT) where there is any previous pregnancy with reported full trisomy of chromosomes 13,18 or 21.
Since 2021, the NHS has offered NIPT as a screening test for trisomies 13,18 and 21, following a higher chance result from the NHS combined or quadruple test via the NHS Fetal Anomaly Screening Programme. In 2024, following an NHS England funded proof-of-concept project, the offer of NIPT was extended to women with a previous pregnancy with reported full trisomy of 13, 18 or 21.
A new page on the Central and South Genomics website contains links to all the resources which have been developed to support professionals offering the R445 pathway in clinical practice. | |
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BBC Radio Derby Inherited Cancer Campaign | |
BBC Radio Derby's It Starts with You – Hereditary Cancer Campaign is seeking to raise awareness amongst the public of inherited cancers, to help families understand the importance of knowing their history, recognising their risk and making informed choices.
The campaign is being spearheaded by Becky Measures, presenter of the Breakfast Show on BBC Radio Derby. In 2004, Becky found out that she carries the BRCA1 gene mutation, meaning she has a significantly increased risk of developing breast cancer and ovarian cancer. Two years later, at just 24 years old, Becky made one of the biggest decisions of her life – to undergo a preventative double mastectomy. Becky's mum, who also carries the gene, had the same surgery after discovering 9 out of 12 family members had breast and ovarian cancer.
The campaign kicked off on Friday 10 July when Becky spoke to a number of clinicians from University Hospitals of Derby and Burton and University Hospitals of Leicester. You can hear Becky's interviews with Dr Julian Barwell, Consultant Clinical Geneticist at UHL (listen from 1:39:00) and Karen Potts, Lead Familial Cancer Specialist at UHDB here (listen from 2:08:57).
The campaign will continue throughout July and August, and includes several roadshows where medical professionals will be on hand to offer advice on hereditary cancers. | |
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New Patient Information guides and resources | |
Rare Disease charity Unique have collaborated with the Manchester Rare Conditions Centre, and the NHS North West Genomic Medicine Service Alliance on the development of more information guides for rare genetic conditions. The first few of these new guides are now live:- TUBB3 syndrome
- ZNF699-related syndrome
- Bachmann-Bupp syndrome
- Mosaic variegated aneuploidy 1 – MVA1 (BUB1B variants)
You can access all of Unique's rare condition guides on their website.
The East region Cancer Genomic Patient Information Collaborative have added more patient information leaflets to the East Genomics website. Recent additions include:
Breast and ovarian Other genes and conditions You can access all of our new Cancer Genomics patient information leaflets, covering breast and ovarian, bowel and lynch, prostate, general cancer and other genes and conditions, on our website here.
A team of students from the Julia Garnham Centre – an innovative remote placements facility training the next generation of leaders in genetics created by the University of Sheffield and Sheffield Children’s NHS Foundation Trust – collaborated with the charity Unique to create accessible, medically verified guides for extremely rare genetic conditions.
The booklets provide easy-to-understand information and hope for families navigating rare diagnoses, saving them from searching through dense, technical research studies for answers about what the diagnosis means for their family. Bethany Stanford-Turner, whose 14-year-old daughter Delilah has a condition with only around 450 known cases worldwide, says the student-produced guides can be ‘life-changing’ for newly-diagnosed families who have no idea what the future holds for them. As well as providing a crucial resource for patients and doctors globally, the project offered valuable real-world training for Sheffield students preparing to become the next generation of genomic clinicians and researchers. Find out more. | |
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People who have received genetic test results invited to take part in a survey on their experiences | |
The South East Genomic Medicine Service are leading on a project to better understand people's experiences of receiving genetic test results.
People who have received genetic test results are being invited to take part in a short survey, to help the team understand what works well and where improvements could be made to how results are received. The survey can be accessed here. Please share this with patients as appropriate. | |
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Major expansion of research and treatment for prostate cancer | |
Men at highest risk of prostate cancer will benefit from research to find the best screening strategy and more treatment choices under a major new £20 million package announced on 2 June 2026.
A landmark prostate cancer screening trial will be expanded so that for the first time, all eligible Black men will be invited to take part. The TRANSFORM study - jointly funded by Prostate Cancer UK and the National Institute for Health and Care Research (NIHR) - is testing the best ways to detect prostate cancer earlier and save more lives, while avoiding unnecessary treatment and the associated harms.
The move recognises that Black men face a higher risk of prostate cancer and aims to build the evidence needed to find the best screening strategy and tackle long-standing inequalities. To ensure the expansion reaches Black men from all communities, supported by the funding from NIHR, the TRANSFORM investigators are working with Prostate Cancer UK to boost community engagement around the country and encourage Black men to take part in the trial. Read more. | |
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New video raises awareness of Generation Study’s multi-language accessibility | |
A multi-language video put together by the team at Central and South Genomics with the help of healthcare professionals from across the country has gone live, with the aim of raising awareness of the Generation Study’s accessibility across multiple languages.
The Generation Study is a world-leading research study led by Genomics England in partnership with NHS England that is using whole genome sequencing to screen 100,000 newborns and look for more than 200 rare genetic conditions. To ensure the study is accessible for as many people as possible, patient information is available in 17 languages.
The video features healthcare professionals from across England discussing the study in their native tongue or second languages. Rupa Modi, Senior Clinical Research Practitioner at University Hospitals of Leicester NHS Trust, who took part in the video speaking in Gujarati, said: “Providing information in multiple languages is essential for our diverse workforce and patient population, and I am proud to support efforts that expand access to research nationwide.” | |
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Members of the team delivering the Generation Study at Cambridge University Hospitals, Fiona Smith, research midwife and Jess Fletcher, safety and quality midwife (and a participant on the Generation Study) recently took part in a Genomics England podcast which you can listen to here.
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| Five wins for Addenbrooke’s at prestigious biomedical science awards | |
Pathology teams at Cambridge University Hospitals (CUH), took home five awards including the overall Biomedical Science Champion award at this year’s Institute of Biomedical Science (IBMS) Awards.
Four of the awards went to CUH histopathology teams. Histopathology, the study of tissues and cells, is vital in diagnosing and enabling faster treatment for patients with serious diseases including cancer. The CUH histopathology lab receives more than 80,000 tissue samples each year and provides local, national and international services. Read the full story here. | |
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| The work of specialist nurses in the mainstreaming of germline genomic testing in cancer: an investigation | |
Specialist nurses are increasingly working in the mainstreaming of germline genomic testing in cancer. A recent study in the British Journal of Nursing aimed to investigate the work of specialist nurses in the mainstreaming of germline genomic testing in cancer, with a focus on Lynch syndrome, and to consider the future of genomics in nursing.
Semi-structured interviews were conducted with a purposive sample of 12 specialist nurses and three genetic counsellors, and thematic analysis was carried out. Prominent themes arising from the data were: the capability and capacity of specialty-based clinical nurse specialists, for whom genomics is an added part of their wider role, to deliver genomic testing; and whether these specialty-based nurses or specialist genomic nurses, who work only in genomics, are best placed to deliver genomic testing. | |
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| Cancer vaccine developed for people at highest risk of disease | |
A vaccine designed for people at high risk of bowel and ovarian cancer has been developed by the University of Oxford alongside the pharmaceutical firm Moderna. Experts at Oxford believe the mRNA technology behind this vaccine has the potential to be adapted for other cancers in the future.
A study launching this summer will assess whether the vaccine can train the immune system to recognise and eliminate pre-cancerous cells in people with Lynch syndrome before cancer develops. Lynch syndrome is linked to a far higher risk of bowel, womb and ovarian cancer, alongside other types such as stomach, pancreatic, kidney and skin cancer. Around one in 300 people in England have Lynch syndrome, but just 5% are aware they have the condition. Read more. | |
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| Integration of pharmacogenomics into precision medicine: transforming healthcare for the next generation | |
Pharmacogenomics is now an essential part of precision medicine, as it describes how genetic differences at the individual level influence drug responses. Its combination enables a transition from trial-and-error prescriptions to predictive, genotype-directed treatment, thereby enhancing the safety and accuracy of treatment.
Rapid genomic testing, AI-driven prediction of drug-gene interactions, and clinical decision-support systems have advanced, increasing their uptake in psychiatry, cardiology, and oncology. New methods, such as polygenic pharmacogenomic scoring and population-specific genomic maps, are even more personalized. Together, these advances make pharmacogenomics a central figure with the potential to shape the future of personalized, effective, and innovative healthcare. Read more. | |
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| OPUS study - optimising prescribing in care homes | |
Colleagues at Keele University are recruiting staff in care homes to take part in a study run by Dr Helen Smith called "Optimising prescribing in care homes using pharmacogenomics" (the OPUS study).
In this study, researchers are focusing on care homes and whether this testing could support healthcare residents. The team are looking to interview healthcare professionals who have experience of caring for care home residents to hear what they think of this testing. They would like to know if they think it would be useful for prescribing medications in a care home setting, and, if so, how the testing should be set up for it to run efficiently and effectively in this environment.
The interview will take up to one hour and the team can talk to people over the phone or via video call using Microsoft Teams. They have a £25 voucher for everyone who attends an interview. If you are interested in speaking to the team for this study, please get in touch at a.faux-nightingale@keele.ac.uk. | |
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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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| Developing a pilot framework for Lynch syndrome nursing | |
Our colleagues in the North West Genomic Medicine Service are engaging nationally with colleagues, to develop a pilot framework for Lynch syndrome nursing competencies. This work is now nearing completion, and nurses interested in this work are invited to attend one of two online sessions:- Tuesday 5 August, 14:00–15:00
- Tuesday 12 August, 14:00–15:00
In related news, our colleagues within the NHS North Thames Genomic Medicine Service have developed a short survey exploring mainstreaming from the perspective of healthcare professionals. Cancer nurses are invited to complete a short survey 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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| 8 Sep: Genomics foundation course for pharmacists and pharmacy technicians (launch event) | |
This course will build confidence in genomics for pharmacists and pharmacy technicians, covering the science and interpreting results, through to ethics and genomics-informed medicines optimisation. The modules have been designed for all pharmacists and pharmacy technicians working in hospital and generalist settings.
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| 16 Sep: Finding Your Way - A Parent's Guide to Rare Disease | |
Join the launch event for Finding Your Way: A Parent's Guide to Rare Disease on Wednesday 16 September from 12-1pm on Teams. Written by parents, for parents, this new guide offers practical support, trusted resources and hope for families navigating a diagnosis of a rare genetic condition. The event will be hosted by Sarah Wynn, CEO of Unique and Frances Elmslie, Consultant Clinical Scientist. Hear the stories behind the guide and learn from parents and authors Adam Clatworthy and Melanie Dixon about their own quest to find the right support. They will be sharing their personal experiences to help families to feel less alone. Find out more and register your place. | |
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| 22 Sep: Regional Midwives in Genetics and Genomics Network | |
On Tuesday 22 September we will be joined by Dr Michelle Peter, Social Scientist at GOSH and Research Fellow at the THIS Institute, for a session on Black Parents' Experiences of Prenatal Testing. Michelle will be presenting key findings from a recent study, exploring insights into challenges, experiences and opportunities to improve maternity care, as well as impications for practice and equitable prenatal care. If you would like to attend please email our Lead Midwife, Jo Hargrave: Joanne.Hargrave@nnuh.nhs.uk | |
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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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