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| Ovarian cancer reflex HRD testing guidance | |
Tumour samples from patients diagnosed with high-grade ovarian cancer that are eligible for first line PARP inhibitor treatment (e.g. Olaparib) should undergo reflex tumour testing to establish homologous recombination deficiency (HRD) status (Test M2.5). There is no need for additional patient consent to be gained prior to testing. See further information here. | |
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| Solid cancer service updates - Cambridge Lab | |
Solid cancer referrals to our Cambridge Laboratory should be made using our updated order form, and clinical reports may now include additional genetic findings pertinent for clinical trial recruitment. See further information here. | |
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| Diagnostic discovery reporting of whole genome sequencing | |
Clinicians that have previously referred patients for whole genome sequencing (WGS) have started to receive clinically validated reports containing updated clinical findings for patients that have already received the results of their initial WGS test. These reports include genetic variants that have been identified through research or technological advances since the time of the original test and are returned as part of the NHS Diagnostic Discovery pathway. For more information, including what to do if you receive a report, please see our website. | |
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| NHS Genomics Healthcare Summit | |
Registration is now open for the 2025 NHS Genomics Healthcare Summit. The event will be held across two days on Monday 15 December and Tuesday 16 December 2025 in London, at the Queen Elizabeth II Centre, Broad Sanctuary, London, SW1P 3EE. Now in its fourth year, the Summit is a key event in the field of genomics. Attendees will hear about the latest advances in genomic medicine, its clinical applications and plans for genomics-enabled healthcare. The event programme is available here and will be updated as speakers are confirmed. Beyond the informative sessions, this event offers a valuable platform for networking, knowledge-sharing and collaboration. It enables attendees to connect with healthcare leaders, experts, academia, charities and patient and professional groups. Together, we can work towards innovative solutions that improve healthcare. If you have any questions, please email england.genomics@nhs.net. For booking queries, please contact events@pcc-cic.org.uk.
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| Genomics Conversation Week 2025 | |
The eighth annual #GenomicsConversation campaign takes place this week (3 - 7 November 2025) helping healthcare professionals discover more about genomics and what it means for them, their practice and their patients.
Genomics is a key part of the 10 Year Health Plan, and it’s never been more important for healthcare professionals to be able to talk confidently about genomics and signpost patients to relevant information and services.
This year, the week will focus on 'creating connections' in genomics. That might mean finding out how to get support in your genomics learning journey, exploring ways to delve into the subject with colleagues, or understanding how to talk about genomics with patients.
Each day is themed and we’ll be taking part throughout the week, so keep an eye on our LinkedIn page and website.
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| Service evaluation supports roll-out of rare disease patient passport | |
A new paper, published in the European Journal of Human Genetics, presents a service evaluation of the 'This is Me' rare disease patient passport, developed by Cambridge Rare Disease Network.
As part of the evaluation, patients and caregivers completed surveys before and after using the passport. HCPs were also surveyed on their perception of the passport.
CamRARE developed the ‘This is Me’ Rare Patient Passport in collaboration with their Unique Feet families group and medical professionals. Designed to address the unique needs of individuals with rare conditions, the passport aims to provide comprehensive but succinct personalised information about a patient in a way that standard health passports do not.
Among ‘post-passport’ survey respondents, 85% used the passport during care interactions; 72% found it eased communication with unfamiliar teams, and 64% felt more confident communicating their needs. Over half (54%) felt the passport helped access needed care, 68% found it more useful than existing tools, and 76% were highly likely to recommend it to peers.
All 31 HCP respondents listed perceived benefits, including improved HCP-patient/caregiver communication. By alleviating patient/caregiver-HCP communication challenges, this rare-disease-specific patient passport can enhance healthcare coordination and patient experiences.
Individuals, parents and caregivers can register to receive the passport template, patient groups can register to show interest in adopting/adapting the passport for use with their own community, and staff within NHS healthcare settings can register to show interest in trialing/adopting/adapting the passport for their setting. You can find out more about the CamRARE patient passport here. | |
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| NHS to screen all newborn babies for life-threatening metabolic disorder | |
The NHS has begun routinely screening newborn babies for a rare, life-threatening metabolic disorder, which can result in the need for a liver transplant, meaning the condition can be detected and treated earlier.
Hereditary Tyrosinaemia Type 1 (HT1) is a rare, genetically inherited disorder that affects around 7 babies per year in the UK. Left untreated, it can lead to severe complications such as organ damage and liver failure.
This condition will now be screened for in the blood test that babies get on the fifth day after they are born, taken from the heel. The test will help to identify and treat babies before symptoms appear, meaning they can get life-saving daily drug treatment sooner and be placed on a restricted diet to make them less likely to face long-term health problems in later life. Read more here.
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| Generation Study diagnosed baby with rare eye cancer leading to lifechanging treatment | |
A boy born with a rare form of eye cancer, usually diagnosed in very young children, is one of numerous babies born with rare conditions who are receiving earlier diagnoses and faster, lifechanging treatment through the Generation Study. You can read the full story here.
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.
Completing the Generation Study is a key part of England’s 10 Year Health Plan. The findings will help inform the Government’s long-term ambition to offer genomic sequencing to all newborns as part of routine care - making it possible to detect and treat serious conditions early in life. This ambition will be subject to the important evidence and data the Generation Study gathers.
So far, over 20,000 participants have joined the study and more than 60 ‘condition suspected results’ have been returned by Genomics England to the NHS for confirmatory testing.
In the East region, our hospital sites have recruited over 22% of all patients taking part in the Generation Study, equating to almost 6,000 participants. Congratulations to University Hospitals of Leicester who recruited their 1000th participant in October, and to Cambridge University Hospitals (The Rosie Hospital) for recruiting their 2000th participant.
At all sites in the region, at least one in five pregnant women are taking part in the study, and at one site, it is one in three! Twelve families in our region have been informed that their babies are suspected of having one of the 200+ genetic conditions screened for by the study. These babies are now under the care of specialist teams and receiving care. | |
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| Improving diversity in health and care research | |
NHS trusts are invited to join a pilot project launched with the Department of Health and Social Care (DHSC) to improve our understanding of the diversity of people taking part in health and care research.
Working the National Institute for Health and Care Research (NIHR), the pilot will gather data to help the NIHR, NHS England and DHSC to assess how well research participation reflects the UK’s diversity – and identify where more action is needed. | |
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| 15,000 women a year with breast cancer could benefit from whole genome sequencing | |
Whole genome sequencing offered to breast cancer patients is likely to identify unique genetic features that could either guide immediate treatment or help match patients to clinical trials for over 15,000 women a year, say scientists at the University of Cambridge.
In 2022, 2.3 million women were diagnosed with breast cancer worldwide and there were 670,000 related deaths. Despite significant progress in recent years, it remains challenging to accurately identify the best treatments for individual patients and to predict cases with poorer prognosis.
Whole genome sequencing is a powerful technique that involves analysing the DNA of both the patient and their tumour to look for genetic changes, or mutations. This provides information on the underlying cause of the tumour and what is driving it. It can also provide valuable information to guide treatment, for example by identifying vulnerabilities in the tumour’s makeup or spotting signs that a patient might be resistant to a particular treatment.
Professor Nik-Zainal and colleagues from the Department of Genomic Medicine and Early Cancer Institute at the University of Cambridge used data from almost 2,500 women from across England housed within the National Genomic Research Library – one of the world’s largest and most valuable data assets of its kind and run by Genomics England. The data from the 2,500 women came from their recruitment to the 100,000 Genomes Project and was linked to clinical and/or mortality records, tracking outcomes over five years. The researchers looked for genetic changes that cause or influence breast cancer, including problems in the way cells repair DNA.
The researchers found that 27% of breast cancer cases had genetic features that could help guide personalised treatment immediately, either with existing drugs or recruitment to prospective or current clinical trials. This equates to more than 15,000 women a year in the UK. Read the full story here. | |
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| 145 families receive a diagnosis with new genomic method | |
A new genomic method has given multiple people a previously unattainable diagnosis for different rare conditions by identifying complex structural genetic changes that are often missed by standard tests.
Researchers at the Wellcome Sanger Institute, Genomics England, Cambridge University Hospitals, and their collaborators analysed the DNA from 13,700 parents and children from the 100,000 Genomes Project. They found that many of these genetic changes, known as structural variants, directly disrupt genes involved in childhood development.
Published in Nature Communications, this study found that one in eight of these structural variants were complex, often involving multiple changes, and these were twice as likely to be missed by current clinical tests.
The researchers have developed a new pipeline that allows them to find these structural variants and were able to classify them into multiple subtypes depending on the impact that the change had on a patient. While some patients had an initial diagnosis, this information provided more in-depth insights that would not have been possible previously.
The team hope that this method has the potential to help improve the diagnosis and management of rare conditions in the future. Read more here. | |
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| Rare cancer study findings from Birmingham hospital hailed | |
Researchers at Queen Elizabeth Hospital Birmingham (QEHB), a leading centre for the PROCLIPI Study, have contributed to new findings showing that patients with Cutaneous (skin) T-cell Lymphoma (CTCL) experienced improved overall survival when treated with mogamulizumab, known by its brand name Poteligeo.
CTCL is a rare type of cancer that begins in the white blood cells and affects the skin, causing rashes and slightly raised or scaly round patches.The most common types are mycosis fungoides and Sézary syndrome, with around 150 people diagnosed in the UK each year.
Most experience only a mild, non life-threatening form which can be managed for years, while a smaller number develop a more serious form. Read more here. | |
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| Opportunities for patients to get involved | |
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Events, education and training | | |
| Recordings of webinars and training sessions | |
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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 | |
Next up in our series of national Genomics Lunch and Learn webinars is a session on Thursday 27 November, 1pm - 2pm, on Cardiac Genomics brought to life: A family story. This free webinar will explore how genomics is applied across the lifespan and the wider family including diagnosis, cascade testing and pregnancy considerations, and features patients speaking about their journey with an inherited cardiac condition. Register your free place here.
These webinars are free to attend and is aimed at anyone working in healthcare wanting to learn more about the application of genomics to their clinical practice. You can also see our website here for recordings of previous sessions. | |
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| 10 Nov: Haemato-Oncology Symposium | |
Join our colleagues at the North East and Yorkshire Genomic Medicine Service Haemato-Oncology Symposium 2025. Taking place on the 10 November 2025 12:30-17:15, the symposium is intended for an NHS audience, and will include three sessions:- HaemOnc service updates
- HaemOnc WGS
- HaemOnc Projects and Innovations
You can view the agenda here, and register your place here. | |
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| 13 Nov: Implementing AI in Genomics | |
Join the Genomic AI Network for a full-day event bringing together leading voices to explore the practical role of artificial intelligence in genomics. Through a combination of practical workshops, 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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| 14 Nov: Genomics in men's health: Harnessing the genome | |
To mark Men's Health Awareness month, Central and South Genomics is hosting a webinar on all things genomics and men's health. From fertility through to oncology, attendees can expect to hear about a range of important topics shaped by our genes, including: - X-linked conditions
- Lynch Syndrome
- Prostate cancer
- Male infertility
- The patient experience
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| 15 Nov: Haemochromatosis 2025 | |
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Frank Lee Centre (Hexagon Room), Cambridge Biomedical Campus, 4pm - 7pm Join three Cambridge researchers who have specialised in research in infants, children and young people to hear how research is changing the way we diagnose and treat health conditions that emerge in the early years, setting the stage for healthier outcomes. There are two sessions (talks are repeated with a new audience) – either in the afternoon (4-5pm) or evening (6-7pm) so, you only need to book one session. Find out more and book your ticket on Eventbrite. | |
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| 21 Nov: Practical applications of generative AI tools in healthcare education and training | |
As part of their ‘Sharing Good Practice’ series, NHS England’s National School of Healthcare Science will be joined by Dr Nicholas Hickson and Prof Paul Shore to deliver a session on the ‘Practical applications of Generative AI (GAI) tools in Healthcare Education and Training’.
This session is designed for trainee healthcare scientists and trainers with basic awareness of GAI concepts. Participants will learn to identify GAI tools applicable to healthcare education, understand specific applications for learning and teaching, apply basic prompting techniques, and recognise limitations of these tools in educational contexts. Find out more and register here.
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| 24 - 25 Nov: Future of Healthcare Fair | |
The Health Genomics Forum & Future of Healthcare Fair 2025 is a two-day international event designed to inspire collaboration, spark innovation, and shape the future of global health.
Join leading scientists, policymakers, and industry pioneers from the UK and Indonesia as they explore how genomics, AI, and collaboration are transforming healthcare — from precision oncology and rare disease breakthroughs to pathogen genomics, pharmacogenomics, and equitable access for all populations.
Students, early-career researchers, or professionals working on a project in genomics, bioinformatics, or precision medicine can send an abstract to fara@genepica.org for a chance to present at the Research Spotlight Session.
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| 24 Nov: Thalassaemia - Clinical Manifestations and Genomics | |
The latest in Central and South Genomics' Rare Disease Series focusses on Thalassaemia and takes place on 24 November at 1.30pm. The session will explore the genomics of thalassaemia and which patients are eligible for genetic testing. It will also cover how to order a genetic test and manage the consent process. Register for your place here. | |
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| 26 Nov: Beacon’s Manchester Rare Disease Showcase | |
Over 15 expert speakers working across the rare disease space will take to the stage on 26 November at the Bridgewater Hall in Manchester to discuss groundbreaking progress in academia, industry, healthcare, and patient advocacy across the UK.
Beacon’s programme will feature talks and discussions on topics that matter most to the rare community, including: - AI and digital innovation for patients
- Collaboration across the rare disease ecosystem
- Innovation in research and drug development
- Shaping the future of rare disease policy
- Patient and family empowerment in advocacy
- Championing young voices in healthcare and research
- Tackling health inequalities in rare diseases
- Diversity, equity and inclusion in healthcare
View the full programme and book your place here. Enter promo code MCR10 at checkout to save 10% off the price of your ticket.
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| 4 Dec: UKCGG Winter Meeting | |
Please save the date for the United Kingdom Cancer Genetics Group (UKCGG) Winter Meeting on Thursday 4 and Friday 5 December 2025. The meeting will take place over two morning sessions and will be held virtually via Zoom. Further details and registration will be available soon, and shared via this newsletter. You can find out more about the UKCGG on their website. | |
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| 10 Jan: East of England Healthcare Science Conference | |
The East of England Healthcare Science Conference takes place on 20 January 2026 at the Babraham Institute, Cambridge. There will be a focus on the Ten Year Plan, with an introductory presentation by the Chief Scientific Officer, Professor Dame Sue Hill. Registration is open to all Healthcare Scientists and Trainees. With such a busy program and limited number of spaces, places are being offered on a first come first served basis. You can apply for a place here. Confirmation of you registration and secured place will come through in the coming weeks. | |
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| 2026 Gene People Symposium | |
Whether it's for investment decisions, access to services, treatment approvals, drug appraisals, or funding for support groups and charities - evidence is the foundation. The need for robust research has never been more critical.
The 2026 Gene People Symposium will explore how that evidence is generated through research, and why it's essential for driving change and improving lives. Chaired by Kath Bainbridge, Head of Rare Diseases and Emerging Therapies at the Department of Health and Social Care, this important event will bring together: People living with genetic conditions Patient and support groups Researchers and clinicians Genetic counsellors and nurses Industry leaders Policy-makers and more
Attendees will delve into the challenges, opportunities, and future of evidence generation in genetic medicine. Find out more and register 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 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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If you would like to unsubscribe to these newsletters please email us | |
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