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| Easier sampling for cancer whole genome sequencing | |
You can now send solid cancer samples to East Genomics using RNAlater. This removes the need for immediate freezing or dry ice shipment in many cases and makes out-of-hours sampling safer and more practical.
RNAlater can be used in situations where: - Samples are collected out of hours – place fresh tissue directly into the tube containing RNAlater
- If immediate freezing or courier on dry ice isn’t feasible.
RNAlater samples can only be used for WGS testing. If both diagnostic and WGS tests are required, adequate formalin-fixed material for diagnostic testing must also be collected in a separate pot. See our website for further information on RNAlater, how to request kits, plus guidance for CUH and non-CUH referrers. | |
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| Diagnostic discovery reporting of whole genome sequencing | |
Last month we updated on the NHS Diagnostic Discovery pathway, with information for clinicians who have previously referred patients for whole genome sequencing (WGS) and who have started to receive clinically validated reports containing updated clinical findings for patients that have already received the results of their initial WGS test.
Earlier this month our Education and Training Lead, Gemma Chandratillake hosted a meeting of our Pediatric Genomic Community of Practice on this topic. You can watch Gemma's update here (you can request access to the workspace with an NHS email address). | |
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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.
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.
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| 'Revolutionary’ treatment gives boy with rare condition chance at normal life | |
The parents of a three-year-old boy born with a life-limiting genetic condition say he's been given a chance at a normal life thanks to a "revolutionary" stem cell treatment. Ollie Chu travelled from California in the United States to the Royal Manchester Children's Hospital in February 2025 to undergo the gene therapy treament, which was developed by researchers in Manchester.
Ollie was born with Hunters Syndrome, a rare inherited condition which prevents him from producing an important enzyme that breaks down sugar. Over time, this can cause build ups in the organs and tissue and lead to hearing loss, breathing problems, heart issues, and mental decline.
The condition can be life threatening, with life expectancy rarely exceeding 20 years. Ollie was one of the first to undergo an alternative one-off treatment being trialled at the Royal Manchester Children's Hospital (RMCH), which involves removing the patient's stem cells, replacing the faulty gene, and then re-injecting the modified cells. Read the full story here.
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NICE Update: CYP2C19 genotype testing to guide clopidogrel use after ischaemic stroke or transient ischaemic attack NICE have updated their page for DG59 to include information from the national testing pilot. This pilot, completed by the NHS Pharmacogenomics and Medicines Optimisation Network of Excellence, has produced an implementation guide and series of support materials which have been published on the North West GMSA webpages.
NHS England have confirmed that it has not been possible to identify the necessary funding to support the national commissioning of this testing at this point in time.
Pharmacogenomics & Medicines Optimisation Network of Excellence Our Clinical Pharmacy Leads attended the fourth Pharmacogenomics and Medicines Optimisation Network of Excellence meeting in Manchester on 13 November 2025. Our highlights were: - The Genomics England Adult Health programme, which is exploring people’s attitudes towards offering genomic testing to adults without a known, genetically caused or influenced condition.
The PHOENIX trial which will deliver CYP2C19 testing across numerous sites and clinical specialties in Glasgow as part of a randomised controlled trial. A presentation which showed that testing for a specific variation in the gene ADRB2 was cost-effective when scaled-up for the NHS. This intervention identifies a variation which can then be used to tailor treatment with montelukast in place of salmeterol when treating adolescents. Discussion around the CERSI PGx (Centre of Excellence in Regulatory Science and Innovation in Pharmacogenomics) which has five work packages. One key workstream is the development of UK based guidelines, which will reflect UK clinical practice and aims to provide guidance on drug dosing, which genes and variants should be tested, health economic evaluations and research recommendations.
The Royal Pharmaceutical Society are developing a Pharmacogenomic Resource for all Prescribers aligned to A Competency Framework for all Prescribers. They are looking for diverse feedback, including from: - Prescribers already using pharmacogenomics within their practice
- Prescribers who think might use pharmacogenomics in the future
- Colleagues representing an organisation that employs prescribers
- Colleagues who use or have familiarity with A Competency Framework for all Prescribers
For more details, including the draft resource see the RPS consultation landing page. Please complete this survey (45-60 mins) by 9 January 2026. Your input will ensure the resource is current, clear and relevant for prescribers from all professional backgrounds.
How can the NHS make the most of the paediatric pharmacogenomics opportunity? In its 10 Year health plan for England, the UK government pledged to put the NHS “at the front of the global genomics revolution”, teasing a “genomics population health service to provide predictive and preventative care that anticipates need, rather than just reacting to it”.
With plans to roll out universal newborn whole genome sequencing, a national dataset of patients and health information, pharmacogenomics as part of the pharmacy undergraduate curriculum, and mandatory genomic tests already commissioned for some drugs, the UK certainly has potential to expand its use of pharmacogenomics to improve care for patients.
A recent roundtable meeting, hosted by The Pharmaceutical Journal at the Royal Pharmaceutical Society (RPS) brought together a range of experts to discuss the challenges and opportunities around wider implementation of paediatric pharmacogenomics. The event was co-chaired by Alex Clabburn and Katherine Sole, research and learning editors at The Pharmaceutical Journal. Read more here. | |
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| UK National Screening Committee consultations | |
Fragile X Syndrome (FXS) FXS is the most common inherited cause of intellectual disability and a leading genetic link to autism spectrum disorder. It results from a genetic change that affects brain development and can lead to learning difficulties, anxiety, seizures, and gastrointestinal problems. The UK National Screening Committee has opened a consultation on whether antenatal and newborn screening for FXS should be introduced. You can share your views and get involved in the consultation here. You can find out more about fragile X via GeNotes.
Prostate Cancer The UK NSC is consulting on whether to change its recommendation on this condition and is accepting public comments. Please find here a Q and A to help the NHS Genomic Medicine Services and wider stakeholders answer questions from patients and the public on the draft recommendation to offer a targeted national prostate cancer screening programme to men with a confirmed BRCA1/2 gene variation every 2 years, from age 45 to age 61. You can submit your views as part of the consultation here. It is open until 20 February 2026. | |
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| Genomic resources for 16-18 year olds with cancer: a CCLG survey | |
As part of the CCLG: The Children and Young People's Cancer Association, researchers are wanting to explore what genomic resources are available for young people (aged 16-18) with cancer across the UK. This is to help identify any gaps or barriers to testing for these young people.
There are two surveys available: one for healthcare professionals and one for laboratory staff. These are short and will take less than 10 minutes to complete. Responses can be anonymous, or you can include your email if you would like updates from the survey and ongoing work.
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| Help East of England Cancer Alliance understand regional service needs | |
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A baseline survey was completed at this time, giving an understanding of education needs and contributing to the workplan that ensued. Thank you if you took part in the survey. Now 18 months on, the EoE Cancer Alliance would like to reassess and establish the region's understanding and service needs.
We would very much appreciate your support in doing that by completing one of the following surveys, relevant to your area of practice:
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| Help shape the use of genomic information in adult population healthcare | |
The Government has funded Genomics England to deliver a new, long term research study to explore the use of genomics for adults to improve prevention or early detection of ill health. Genomics England is taking its first steps to design this research study, which includes engaging with people in society, in communities, and working in healthcare to shape this.
If you are a healthcare professional working in England who may work with genetic information now or in the future particularly: - Working in primary care, community care, family history clinics, and delivering public health services such as screening, smoking cessation or weight loss support. This includes GPs, practice nurses, health visitors, community pharmacists and other professionals who may encounter genetic information in their healthcare practice now or in the future.
Find out more and access the survey here (closes 5 January 2026).
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| Cambridge University Hospitals (CUH) designated a Tessa Jowell Centre of Excellence for Children | |
CUH is one of four UK paediatric neuro-oncology centres to be awarded the designation by the Tessa Jowell Brain Cancer Mission (TJBCM). CUH was designated as a Tessa Jowell Centre of Excellence after working for the past 18 months to implement innovative new solutions. The centre’s neuro-oncology team showed an exceptional commitment to service development, bringing together a wide number of specialties to deliver impactful changes. Read the full story here.
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| Patient engagement and experience updates | |
Shine a light on co-production The Experience and Partnerships Team at NHSE would like to invite you to their “Shine a Light on Co-production” events. These events aim to shine a light on the potential of co-produced improvements and demonstrate what can be achieved when people working in the NHS and people with lived experience partner together. At each event, we will discuss the difference co-production made to them and their organisation, their top tips, what went well and the challenges they faced.
For further information, or if you would like to be a speaker and share your story, please contact the team at england.eoccoproduction@nhs.net.
Co-Production: Free Taster Session Curious about co-production in healthcare but not sure where to start? Picker are offering a free 1-hour online taster session to explore how co-design and co-production can support person centred care, and discover how our courses can help you bring these approaches into your work. Find out more here.
RareCare national survey The RareCare project, a national study funded by the NIHR, has launched a survey to better understand the real-life experiences of people affected by rare conditions and to assess whether England’s Rare Disease Action Plans are leading to improvements in the four priority areas: faster diagnosis, coordination of care, access to treatment and support, and awareness and education among healthcare professionals.
If you are living with a rare disease in England, caring for someone who is, or working in the rare disease field, you can take the survey here.
National Cancer Patient Experience Survey 2025 The 2025 National Cancer Patient Experience Survey (NCPES) is open until 30 January 2026. Eligible participants include adults with a confirmed primary cancer diagnosis who received inpatient or day case treatment between April and June 2025.
The NCPE survey allows cancer patients to give feedback on the care they have received. This feedback is used to understand where care is working well and how NHS cancer services across England can be improved. Results from the survey are used by providers to improve the experience of cancer patients at a national, regional, and local level.
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Can you support the roll-out of CamRARE's patient passport? A paper published in the European Journal of Human Genetics supports the roll-out of the This Is Me Rare Disease Patient Passport, developed by Cambridge Rare Disease Network. 'Patient passports’ support communication and healthcare coordination by sharing healthcare information with Healthcare Professionals (HCPs), which has been shown to reduce the burden on patients and caregivers. Despite this, currently no widely adopted passport addresses the multifaceted needs of patients with rare diseases.
CamRARE developed the This Is Me Rare Patient Passport in collaboration with Unique Feet families 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.
The pilot study reports that 72% of families who used the passport during care interactions found that it eased communication with unfamiliar teams, and 64% felt more confident communicating their needs. Over half 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.
The CamRARE Rare Patient Passport is a printable PDF. Supplied with guidance notes, it’s easy to complete and keep updated. It can be used as an A4 page, or folded to fit in a lanyard wallet. Find out more on the CamRARE website.
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Watch: Holly O’Dea, Education & Training Lead and Principal Clinical Scientist at North West Genomic Laboratory Hub (aka the Scouse Scientist) recently gave a TEDx talk about her story and the stereotypes associated with careers in science, and how genomics is changing the NHS for the better. | | |
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| Genomic newborn screening in the NHS: Survey for NHS professionals | |
Genomics England would like to hear from NHS professionals from a range of backgrounds, including midwifery, obstetrics, fetal medicine, paediatrics, general practice, genetics and health visiting, through a survey on the Generation Study. The aims of this survey are to: - Capture what NHS professionals think about genomic newborn screening in the Generation Study
- Understand if and how NHS professionals have been impacted by the Generation Study
- Explore what NHS professionals think about offering genomic newborn screening routinely in the NHS
The survey will take around 20 minutes to complete and is anonymous. You can take the survey here. You do not need to have experience or knowledge of genomics or the Generation Study to take part; everyone’s opinions, views and experiences are valuable.
This survey is part of an independent Process and Impact Evaluation of the Generation Study that has been commissioned by Genomics England. For more information about the Evaluation see here. | |
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| NHS genetic testing gives ‘power’ to families with rare conditions | |
A new study has shown that whole genome sequencing (WGS), now offered as part of NHS care, allows children with rare conditions to access the right care faster.
The research by clinicians at Great Ormond Street Hospital (GOSH), published earlier this month in Genetics in Medicine, shows that children diagnosed with a rare condition at GOSH who have had WGS through the NHS’ Genomic Medicine Service (GMS) are more likely to find the genetic cause at an earlier age than before. This is thanks to learnings from the 100,000 Genomes Project. | |
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Nathaniel’s story 3-year-old Nathaniel Clayton started having problems with his vision when he was just 6 months old. Clinicians initially planned to test a small section of his genes to help identify rare conditions affecting the eye. However, after consultation about his symptoms it was decided that he should have his whole genome sequenced.
The results showed that Nathaniel has KIF1A, a neurological condition caused by changes in the KIF1A gene that would not have been picked up without WGS. It can cause weakness in the legs, epileptic seizures, eyesight problems, and global developmental delay.
Although there is no current cure or treatment for KIF1A, having a diagnosis has been transformative for the family. Nathaniel now has access to specialist care, such as physiotherapy for children with movement disorders, and his parents have found a community of KIF1A families who provide support for each other.
Marianne, Nathaniel’s mum, said: “Perhaps for parents that haven’t lived through this, a diagnosis without a treatment might not sound too transformative...Now we have a name we can begin finding the right support for our son, we can begin looking at the research, it is the start of the next phase of Nathaniel’s, and our families, journey".
For the study, researchers investigated the clinical outcome of 500 patients at GOSH who had WGS through the North Thames GMS and compared that with almost 2,000 children who took part in the 100,000 Genomes Project. They found that the diagnostic rate in the GMS increased to 29% compared with 22% in the 100,000 Genomes Project. The researchers concluded that the 100,000 Genomes Project had raised awareness of genomic testing amongst clinicians, and found that testing more genes per patient would improve the effectiveness of a genetic test. Read the full story here. | |
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| UK provides £15.9 million to transform human disease modelling | |
A new UK research initiative is set to revolutionise how scientists study human diseases and develop new medicines. With £15.9 million in funding from the Medical Research Council (MRC), Wellcome, and Innovate UK, the project hopes to advance the use of human disease modelling that can more accurately reflect fundamental human biology and disease processes.
The new programme will focus on creating advanced in vitro models, which are systems that use human cells and tissues grown outside the body. These human disease models include stem-cell-derived organoids, tissue slices removed during surgery (known as explants), and organ-on-chip technologies that replicate the structure and function of human organs using microfluidic systems. Read more here. | |
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| What is risk in clinical genetics? Designing and piloting tools to evaluate risk in clinical genetics using failure modes and effects analysis | |
In order to develop a Clinical Genetics-specific risk assessment tool to prospectively monitor risk, researchers conducted a retrospective review of 115 cases with identified adverse events or near misses in Clinical Genetics in Ireland. From this they designed a process map to define the steps where risk occurs across the patient journey through clinical genetics. The research team then piloted a clinical audit form using the process map to capture risk event frequency.
The draft process map and audit form were trialled (2022–2023) in 5 other European clinical genetics centres for validity and usability, and 2 re-audited in 2024 to assess utility. Using narrative summaries from the case review, researchers modified the national health risk severity scoring for clinical genetics use. Find out 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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| 9 Dec: Leveraging Large Language Models to Generate Accessible Information Guides for Rare Genetic Neurodevelopment Disorders | |
The session on Tuesday 9 December, 12.30-1.30pm, will introduce the work of Unique, a charity that creates accessible information guides for rare genetic neurodevelopmental disorders.
As the number of identified conditions grows and knowledge evolves, keeping these guides accurate and up to date has become more complex. | | | |
To help address this, the team has developed and validated a method that uses large language models to speed up the production of these guides. During the webinar, they’ll share early findings and invite feedback on how the method could be strengthened. It’s also a valuable chance for patients and families to share their views. Find out more and register your place here. | |
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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 12 December, 1pm - 2pm, on Huntingdon's Disease: Care coordination and latest research advancement. 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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| 21 Jan: SAVE THE DATE - Cancer Genomics Improvement Programme | |
The Cancer Genomic Improvement Programme (CGIP) was established and funded by the National Cancer Programme 2024/2025 for a 6-month period. The aim was to improve and deliver the end-to-end turnaround times approved for solid tumours and haemato-oncology.
In the East region we have completed a non-small cell lung cancer end-to-end pathway turn around time review. This was a large scale collaboration between East Genomics/GMSA, The East of England Cancer Alliance, East Midlands Cancer Alliance, GLH/LGLs, Pathology networks and other key parties.
In this webinar on Wednesday 21 January 2026 we will present an overview of this work, our findings and plans to develop a data dashboard. You can register your free place here. | |
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| 28-29 Jan: Festival of Genomics and Biodata | |
The UK’s largest life sciences event is back for its 11th year, with more speakers and sessions than ever before. The Festival now covers a diverse array of topics beyond genomics, including AI, biodata, cancer diagnostics, drug discovery, genomic medicine, proteomics, multi-omics, single-cell, spatial and so much more. See the Festival website here. | |
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| 5 March: Renal Genomics Course | |
Genomic testing is transforming nephrology — from diagnosing inherited kidney disease to guiding treatment, counselling families, and shaping service design.
This short course provides a practical, clinically‑focused update on the principles and practice of genomic medicine in kidney disease. You’ll learn how to choose the right genetic test for a patient’s phenotype, interpret reports (including VUS), counsel patients and families, and apply genomics across common genetic kidney diseases including ADPKD, ADTKD and Alport syndrome. | |
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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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11 March: HSJ Health SHIFT 2026 – Advancing Genomics, Diagnostics & Cancer Care | |
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Under the banner of Health SHIFT: Early Intervention, HSJ is bringing together senior NHS leaders, clinicians, and partners on 11 March 2026 in London to accelerate progress across genomics, diagnostics, and cancer care - three pillars, three forums critical to achieving the ambitions of the NHS 10-Year Plan.
By uniting the latest national priorities and the transformation of services through
Community Diagnostic Centres and the genomics service model to the forthcoming Cancer Strategy Health SHIFT: Early Intervention empowers health leaders to translate ambition into measurable impact across systems, places, and neighbourhoods. Whilst there is an opportunity to attend select sessions across the different events, HSJ ask you to select a primary forum to ensure the best possible experience for everyone. | |
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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. You'll have the chance to:- Hear from expert speakers
- Take away best practice
- Gain insights on key topics
- Network with colleagues from across the UK
In the morning, attendees will hear exciting clinical updates, as well as plenary sessions on hot topics in breast cancer treatment and care. In the afternoon, you can take part in interactive breakout sessions covering 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 put 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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