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Test directory updates introduce NSCLC ctDNA, simplified sickle cell testing and more | |
The latest version of the national genomic test directory is now live, check out our updates for changes in cancer and rare & inherited disease.
In cancer The new version adds ctDNA testing for non-small cell lung cancer (M4.14), additional targets for locally advanced & metastatic breast cancer (M3.6,M3.13), and greater specifics on eligibility for bladder cancer tests (M217). See full details on our website.
In rare & inherited diseases Sickle cell tests for patients and carriers (R94, R362) have been removed and integrated into haemaglobinopathy testing (R93, R361). Exclusion criteria changes to R310, R425, R250 and R304 for consanguineous families. Additional clarifying information has been added for monogenic disorders for acutely unwell children (R14) and chromosomal disorders (R297, R314, R265, R402). See full details on our website. | |
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| New approach to treating aggressive breast cancers shows significant improvement in survival | |
A new treatment approach significantly improves survival rates for patients with aggressive, inherited breast cancers, according to Cambridge researchers.
In a trial where cancers were treated with chemotherapy followed by a targeted cancer drug before surgery, 100% of patients survived the critical three-year period post-surgery. | | | |
The discovery, published today in Nature Communications, could become the most effective treatment to date for patients with early-stage breast cancer with inherited BRCA1 and BRCA2 gene mutations.
Led by Addenbrooke’s Hospital, part of Cambridge University Hospitals (CUH) NHS Foundation Trust and the University of Cambridge, the Partner trial saw patients recruited from 23 NHS sites across the UK. Results show that leaving a 48-hour “gap” between chemotherapy and olaparib, leads to better outcomes, possibly because a patient’s bone marrow has time to recover from chemotherapy, while leaving the tumour cells susceptible to the targeted drug.
Of the 39 patients who received chemotherapy followed by olaparib, only one patient relapsed three years after surgery and 100% of patients survived. Read the full story here. | |
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Cutting-edge genomic technology saves woman’s eyesight | |
Great Ormond Street Hospital NHS Foundation Trust has launched the UK’s first accredited ‘metagenomics’ testing service, allowing clinicians to identify infections that are otherwise undetectable, in conjunction with the Severe Presentation of Infectious Diseases (SPID) NHS Genomic Network of Excellence, co-led by Central and South Genomics, North Thames Genomics and South East Genomics.
A recently accredited genomics service at Great Ormond Street Hospital (GOSH), the first of its kind in the UK, is already providing clinical teams around the country with vital information about rare infections – allowing for patients to access targeted treatments they desperately need.
In collaboration with Ophthalmologists at Moorfields Eye Hospital NHS Foundation Trust (Moorfields), the service identified a bacterial infection in the eye of Ellie, 29, that had been plaguing her for over 5 years. All previously available testing had been unable to identify a cause for Ellie’s eye problems, leaving her considering having her eye removed. The GOSH metagenomics team were able to identify a rare bacterial infection and after a course of targeted antibiotics Ellie’s symptoms have begun to clear, restoring her eyesight in time for her wedding earlier this year.
Ellie said: “I will never be able to thank the teams that continued to fight to find answers for me enough. Metagenomics has truly been game-changing for me. I spent Boxing Day of 2023 in hospital, thinking about whether it was time to have my eye removed. Now I can’t even imagine being back in that place, I am able to get back to focusing on my life – being able to have that for my wedding day is a priceless gift.” Read the full story.
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Celebrating the role of nurses and midwives in genomics | |
Earlier this month we celebrated the integral role that midwives (International Day of the Midwife, 5 May) and nurses (Internal Nurses' Day, 12 May) play in bringing the benefits of genomic medicine to patients - by listening to patients, observing symptoms, spotting family histories and referring through relevant pathways.
If you are a nurse of midwife and want to find out more about genomics in your role, you can download our role specific postcards for nurses and midwives which can further information and links to further information, training and resources.
Genomics Learning Passport for Nurses and Midwives now live If you’re a nurse or midwife, having a role-appropriate knowledge of genomics and its use in healthcare is now included in the Nursing and Midwifery Council’s standards of proficiency. To support nurses and midwives the Central and South Genomic Medicine Service has developed the Genomics Learning Passport. The passport guides you through key learning resources and allows you to create your own learning journey in a format that meets the requirements for revalidation. To download your passport, head over to the respective nurse learning passport or midwife learning passport webpages. | |
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| Cambridge University Hospitals reaches milestone in Generation Study recruitment | |
Last year Genomics England launched the Generation Study, which aims screen up to 100,000 babies for 200+ rare genetic conditions at birth. This is a national study with samples being taken at maternity departments across the country.
Earlier this month, Cambridge University Hospitals NHS Foundation Trust became one of the first Trusts in the country to recruit 1000 participants. This is a testament to the efforts of all staff involved in this ground-breaking study, which sees families enrol to have their babies tested for over 200 rare genetic conditions, that have treatment pathways in the NHS if found. The results of this study will help determine whether genomic is a way of expanding current newborn screening in the future.
In terms of the East region, in January of this year University Hospitals of Derby and Burton and University Hospitals of Leicester joined the study, and Norfolk and Norwich University Hospitals began study recruitment in March. Nottingham University Hospitals is set to begin recruitment in early summer 2025. You can find out more about the Generation Study here.
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Some of the Generation Study team at The Rosie Hospital, Cambridge. L-R: Suzy Twiss (Research Midwife, CUH), Emily Li (Generation Study Operational Manager, East Genomics), Prof Kasia Gajewska-Knapik (Consultant in Obstetrics and Feto-Maternal Medicine Subspecialist, CUH). | | |
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There are a number of health awareness dates in May and June linked to genetics and genomic testing. Below we have listed some awareness dates this month and next, 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). | |
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Updates from the Genomics Education Programme | |
Resource hub for pharmacogenomicsThe Specialist Pharmacy Service (SPS) has launched a useful online hub to support healthcare professionals in understanding pharmacogenomics. The hub features a comprehensive set of links to regional resources, national guidelines, education and training, and practical tools. The hub aims to improve patient outcomes through informed medication choices. Explore the huband elevate your practice with the latest information and insights on pharmacogenomics. | | | |
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| WGS for unexplained deaths in children | |
If a child (under 18 years) has died suddenly and their death remains unexplained after the standard investigation protocols including post mortem, a whole genome sequencing test (R441) can be requested to ascertain whether a genetic cause for death can be established.
If you are involved in the care of a family who has lost a child suddenly please see our website for details of who to contact for further advice and support. | |
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| Scientists develop a ‘metal detector’ to find cancer’s weak points | |
Cambridge researchers have created an algorithm which can act as a ‘metal detector’ to pick out vulnerable tumours – a major breakthrough for personalised cancer treatments.
PRRDetect, which was developed by researchers at the University of Cambridge, could one day be used to identify which cancer patients are most likely to benefit from immunotherapy. It works by identifying patterns of mutations that appear in cancer cells when they are unable to repair errors in their DNA.
“Cancers with faulty DNA repair are more likely to be treated successfully,” said Professor Serena Nik-Zainal, who led the first study into the new algorithm. “PRRDetect helps us better identify those cancers and, as we sequence more and more cancers routinely in the clinic, it could ultimately help doctors better tailor treatments to individual patients.” Read the full story here. | |
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| Changes to our Public and Patient Voice panel | |
This month we said farewell to one of our Public and Patient Voice (PPV) panel members, Laura Timm, who has stepped away from the Panel following her 1 year tenure. We would like to extend our thanks to Laura for her involvement and contribution over the past year, and wish her, and her daughter Eleanor all the best for the future.
We are in the process of recruiting a new member of our PPV Panel. If you have experienced genomic testing on the NHS and would be interested in joining our panel as a patient 'expert by experience', or if you have patients who you think might be interested in this opportunity, please see our website for more on our PPV Panel, including a document outlining the application process. | |
Another of our PPV panel members, Rebecca Middleton, features in the latest episode of the Genomic Medicine Service 'Road to Genome' podcast.
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| Removing ovaries and fallopian tubes linked to lower risk of early death among breast cancer patients with BRCA cancer genes | |
Women diagnosed with breast cancer who carry particular BRCA1 and BRCA2 genetic variants are offered surgery to remove the ovaries and fallopian tubes as this dramatically reduces their risk of ovarian cancer.
Now, Cambridge researchers have shown that this procedure – known as bilateral salpingo-oophorectomy (BSO) – is associated with a substantial reduction in the risk of early death among these women, without any serious side-effects.
Women with certain variants of the genes BRCA1 and BRCA2 have a high risk of developing ovarian and breast cancer. These women are recommended to have their ovaries and fallopian tubes removed at a relatively early age – between the ages 35 and 40 years for BRCA1 carriers, and between the ages 40 and 45 for BRCA2 carriers.
A team at the University of Cambridge, in collaboration with the National Disease Registration Service (NDRS) in NHS England, turned to electronic health records and data from NHS genetic testing laboratories collected and curated by NDRS to examine the long-term outcomes of BSO among BRCA1 and BRCA2 PV carriers diagnosed with breast cancer. The results of their study, the first large-scale study of its kind, are published in The Lancet Oncology.
Read more on this story here. | |
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| Assessment of a polygenic risk score in screening for prostate cancer | |
With the incidence of prostate cancer is increasing, screening with an assay of prostate-specific antigen (PSA) has a high rate for false positive results. Genome wide association studies have identified common germline variants in persons with prostate cancer, which can be used to calculate a polygenic risk score associated with risk of prostate cancer.
Researchers recruited persons 55 to 69 years of age from primary care centers in the UK. Using germline DNA extracted from saliva, they derived polygenic risk scores from 130 variants known to be associated with an increased risk of prostate cancer. Participants with a polygenic risk score in the 90th percentile or higher were invited to undergo prostate cancer screening with multiparametric magnetic resonance imaging (MRI) and transperineal biopsy, irrespective of PSA level. Read more here. | |
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| Meet our new R&I colleagues | |
We recently welcomed two new members to the East GMSA team, Masuma Harrison (pictured) who joined us in January on a part-time basis as our new Research & Innovation Director, and Zenzi Fernandez who has joined us as Research Coordinator.
Zenzi, an experienced research professional with a background in life sciences and healthcare management, says of her new role:
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"I’m leading a research mapping exercise for NHS Trusts, Universities, Biomedical Research Centres, NIHR Infrastructure, Health Innovation Networks and other partner organisations across our region to identify current and planned genomic research activity and capabilities. The aim is to build a clearer picture of the research landscape, highlight opportunities, and help improve clinical trial access for patients. This should also better support researchers, strengthen collaboration between teams, share best practice and maximise the impact of genomic innovation on patient care".
Masuma previously worked in clinical trials, and she joined us from the Cambridge Cancer trials centre where she was the Director of Operations leading a large team responsible for ensuring the delivery of high quality clinical and translational research. Having refreshed the East GMSA R&I Stragey for this year, Masuma says:
"Key elements of the new R&I Strategy for East GMSA are Zenzi's mapping of the genomic research infrastructure across the East Midlands and East of England, generating clinical trial recruitment data and improving clinical trial visibility across the East region and engagement with R&I across the East region and nationally." | |
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| International Clinical Trails Day and Be Part of Research campaign | |
Tuesday 20 May 2025 is International Clinical Trials Day. The National Institute for Health Research (NIHR) is using the day to promote its Be Part of Research flagship initiative to encourage public participation in health and care research.
You can find support for researchers on the Be Part of Research website here. If you would like to speak to us about genomic research or clinical trials please contact Masuma Harrison on the email address above.
For those looking to take the next step into a leadership role in clinical research delivery, the East of England Insight Programme is offering funded places on its masters level courses aligned with the Clinician Researcher Credentials Framework. Bursaries are available to pay the course fees for regulated health and care professionals, except doctors and dentists. The deadline for bursary applications is 12 noon on 1 July 2025. For further information, please visit the NIHR website.
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Events, education and training | | |
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Upcoming Communities of Practice | |
Here are upcoming dates, with registration links, for our Genomics Communities of Practice:
You can also access slides and recordings from previous sessions via the 'Clinical Specialisms' folders on our FutureNHS platform (you will need to request access if you have not already done so). | |
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NEW national Genomics Lunch & Learn series | |
Genomics is transforming healthcare - and it’s no longer a niche subject. From diagnosis to personalised treatment, genomic knowledge is becoming essential across all clinical roles.
The 7 regional Genomic Medicine Services have come together to deliver a national series of engaging and accessible Lunch & Learn webinars throughout 2025. The 45 minute lunchtime webinars are aimed at anyone in a healthcare role — nurses, doctors, AHPs, pharmacists, midwives, and all healthcare professionals with an interest in knowing more about genomics and its relevancy to their clinical practice. The series has been designed and developed by healthcare professionals, for healthcare professionals. See our website for more information and the registration links for each session.
Upcoming webinars: - 20 May: What is genomics and why is it relevant to you?
- 17 June: Genomics in Healthcare - red flags throughout the lifespan (genomic testing, consent, ethics and research essentials)
- 23 July: Genomics for all - practical family history skills for holistic care
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| 20 May: Midlands Maternity & Midwifery Festival | |
Our Lead Nurse, Anita Murphy, and Lead Midwife, Jo Hargrave, will be representing the Genomic Medicine Service at the Midlands Maternity & Midwifery Festival, which takes place on Tuesday 20 May in Nottingham.
Jo will give a talk, with her counterpart from the Central and South region, Karen Creed, entitled 'From DNA to delivery and beyond: Making genomics your ally'. | | | |
This annual Maternity and Midwifery Forum event is aimed at all practising and student midwives, academics, health visitors, neonatal nurses and other allied healthcare professionals and free registration is still open here. | |
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| 20 May: Personalising Medicines with Genomics: What Pharmacy Professionals Need to Know about Clopidogrel testing | |
Join our North West GMSA colleagues for an essential workshop to: - Develop an understanding of precision medicine and the role of genetics in stroke treatment and patient outcomes.
- Discover how ongoing CYP2C19 testing pilots in England will impact practice across all areas of pharmacy.
- Learn how you can support patient queries about genomics
Find out more and register here. | |
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| 21 May: Advanced Genomic Communications Skills | |
The Advanced Genomic Communications Skills course is designed for healthcare professionals to build confidence in discussing genomic testing with patients and families. Developed by NHS England’s Genomics Education Programme and the Manchester Centre for Genomic Medicine, it covers theory, case discussions and interactive activities across various specialisms. The course comprises on-demand virtual learning followed by a one-day in-person session, and those who complete both components will earn a certificate for their CPD portfolio. Register for this free one-day course at the Radisson Blu Hotel, London Euston Square, on Wednesday 21 May 2025.
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| 21 May: Regional Nurses in Genetics and Genomics Network | |
Our Regional Nurses in Genetics and Genomics Network (RegNuGGs.net) brings together regional nursing professionals, educators and those in specialist roles that support the embedding of genomics in nursing. The network is open to all nurses working in the East Midlands and East of England.
Next session: Wednesday 21 May 2025, 12pm - 1pm - Topic: The evolving role of genomics in cancer - impacts and essential knowledge for nurses
- Guest speakers: Melissa Campbell-Kelly and Liz Lawrence (Programme Leads, Regional Genomic Clinical Practitioner Service)
To sign up for the meeting, and/or to join the Network, please email egmsa@nnuh.nhs.uk with the email subject 'RegNuGGs'. | |
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| 22 May: Genomics in Paediatrics Webinar | |
Join the Royal College of Paediatrics and Child Health (RCPCH) on 22 May for a free online webinar exploring the latest advancements in genomics in paediatrics and how they are shaping the future of child health, with insights from leading experts. | | | |
The webinar will cover Rapid sequencing (R14), Paediatric disorders and the R27 Super Panel – moving from array CGH, Complex scenarios – including pathways for FASD and will feature Unique charity who will provide insights from patients and families. Register your place here and direct any questions to Genomics@rcpch.ac.uk.
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| 11-12 June: NHS ConfedExpo 2025 | |
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12 June: Genomics in Primary Care: What GPs need to know | |
Genomic medicine has a significant impact within the field of primary care. Generally acting as the gateway to the NHS and specialised services, primary care practitioners are crucial in the early identification of genetic conditions and in ensuring appropriate management of a range of conditions. | | | |
In this webinar, you'll hear from a range of experts - from patients through to healthcare professionals - to examine the application of genomics within primary care and how it relates to your role. Register here. | |
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11-13 June: Curating the Clinical Genome Conference | |
This conference at the Wellcome Genome Campus brings together leading initiatives to establish common standards, share best practices, integrate recent research and drive improvements in patient care. Find out more here. | |
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24 June: Masterclass - Implementing AI in Genomics | |
Join the NHS Genomic AI Network for an exclusive NHS Masterclass on Implementing AI in Genomics. Through a combination of practical workshops, keynote talks and expert panels, delegates will gain experience with real-world tools and applications shaping the future of genomic medicine. If you work within NHS genomic services (clinical or laboratory), this masterclass offers a unique opportunity to learn about adoption of cutting-edge AI tools, engage with AI technologies, and connect with a network of peers at the forefront of this fast-evolving field. Find out more and register here. | |
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Events calendars of other organisations (A-Z) | |
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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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