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As we draw closer to Christmas, and the flagship NHSE Genomic Summit on 12 December, we bring you the usual rundown of genomics news, updates, events and training opportunities.
To suggest items for future editions, or to discuss ideas for developing communications or engagement within your Trust, please get in touch: i.kingsbury@nhs.net.
Here's what we have for you this month: | |
News and updates - Genomics Communities of Practice - expressions of interest invited
- Our new East Genomics e-learning site launched
- NHSE Cancer Genomic Improvement Programme (CGIP)
- Ground-breaking breast cancer programme decodes genetic sequence of a patient’s cancer
- Nursing Live
- Pandemic early warning system
- Real time DNA analysis for brain tumours could guide surgeons as they operate
- Registrations open: NHS Genomics Healthcare Summit in December
- Genomics Education Programme review
- November/December awareness dates
- Genomics podcasts
Laboratory updates
- Lab staff on the road
- The VR lab
- Update on sample storage after reporting
| | NEW: Research news - Data on over 2700 genes relevant to genetic diseases published
- Drugs for advanced breast cancer could help patients with rare condition
- Rare disease genomic testing: Promoting timely and equitable access
- Involving people affected by cancer in shaping genomics policy work
- Link between genetic risk and obesity
- Why we need more diverse voices in healthcare research
Events, education and training | | | |
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| Expressions of Interest sought for new Genomics Communities of Practice | |
We are seeking Expressions of Interest from healthcare professionals interested in running a Genomics Community of Practice (CoP) for their specialty or area of interest. Funding of just over £10,000, plus admin support, will be offered to support the set up and running of each CoP.
To meet criteria for the funding, applicants must: - Be based within the East Genomics region (see our map) and enable healthcare professionals across the geography to participate
- Run monthly CoP meetings (with support) from January 2025 up to March 2026
To deliver equitable access to the NHS Genomic Medicine Service to all eligible patients, we must develop the capability of the mainstream multiprofessional workforce in many specialities and clinical pathways across our region.This challenge necessitates a scalable, systematic solution to education and training provision. NHS East Genomics has piloted and assessed the utility of pan-regional CoPs over the past three years and has found this model to be an effective intervention to reach and upskill mainstream clinicians across the East Genomics geography.
You can watch our Education and Training Lead, Dr Gemma Chadratillake, explain our CoP model below, and access the Expression of Interest form on our website here. Completed EoI forms should be submitted to egmsa@nnuh.nhs.uk by Friday 29 November. | |
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| East Genomics e-learning website launched! | |
We're very pleased to announce this month the launch of our new genomics e-learning platform!
Developed with support from Health Education England's Genomics Education Programme, the modules are designed to support healthcare staff to develop their knowledge and professional practice around genomic medicine and testing services, ultimately for the benefit of patients. | | | |
Modules available:
- Patient Choice: discussing whole genome sequencing
- Genetic Testing for Hereditary Breast Cancer
- Genetic testing for Inherited Cardiac Conditions
- Genetic Carrier Testing in Primary Care
- Rapid Prenatal Exome Sequencing
- Monogenic Diabetes in Pregnancy
Our aim is to develop the platform with further courses added throughout 2025. After registering for an account, you can undertake modules, and download certificates on completion, to evidence continuing professional development. | |
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Cancer Genomic Improvement Programme (CGIP) | |
The Cancer Genomic Improvement Programme (CGIP) has been established, and funded by the NHS England Cancer Programme in 24-25, to tackle the end-to-end turnaround times approved for a series of solid tumours and haemato-oncology during 2023.
Actions will be taken within each region to improve the turnaround times across the end-to-end pathway with the ultimate aim of delivering the nationally approved end-to-end turnaround times. | | | |
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Ground-breaking breast cancer programme decodes genetic sequence of a patient’s cancer | |
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For Breast Cancer awareness month in October we highlighted a story featuring Julie who is benefiting from taking part in the Personalised Breast Cancer Programme (PBCP). The PBCP is offering Julie and others with breast cancer whole genome sequencing, where DNA is read like a barcode, to help inform their cancer treatment and care. The programme, which started at Addenbrooke’s in Cambridge, is now opening at Norfolk and Norwich University Hospitals. The milestone means Norfolk and Norwich will be the fourth site in the East and the fifth site to open nationally after the programme was rolled out from Cambridge to Ipswich, Colchester and Oxford. Read the full story here. | |
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Did you spot us at Nursing Live? | |
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Our Lead Nurse Anita teamed up with counterparts from the South West, Central and South, and South East regions for a joint genomics stand. Says Anita: "We really enjoyed the opportunity to raise awareness of genomics in nursing. We spoke to hundreds (we reckon over 500!) nurses from across the country, working in acute, primary care and community settings. | | | |
Next year's event will be held in Birmingham NEC on 5 and 6 November 2025 and is free to attend. You can find out more here. | |
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| World-first pandemic 'early warning system' | |
Plans have been announced to form a new partnership between the government, Genomics England, UK Biobank, NHS England and Oxford Nanopore - a UK-headquartered, world-leading life sciences company.
Oxford Nanopore uses long read sequencing technology to analyse genes and pathogens to rapidly diagnose a range of cancers, along with rare and infectious diseases. The technology can sequence long strands of DNA or RNA in one go, without breaking it up into smaller fragments. In infectious diseases, Oxford Nanopore’s technology will help to create an early warning system for future pandemics and potential biological threats, both preventing disease and protecting the public. It will be used in the expansion of NHS England’s Respiratory Metagenomics programme, being led by Guy’s and St Thomas’ NHS Foundation Trust. It uses samples from patients with severe respiratory infections and rapid genetic testing to match those patients with the right treatments within 6 hours....read the full story here. | |
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| Real time DNA analysis for brain tumours could guide surgeons as they operate | |
A team spanning neuropathologists, scientists, neurosurgeons and researchers at Nottingham University Hospitals NHS Trust (NUH), the University of Nottingham and colleagues in Germany is developing a nanopore sequencing-based approach that has the potential to transform the diagnosis of tumours.
The Nanopore sequencer, in use as a research tool at present, enables a radical new pathway where brain tumours can be diagnosed within just two hours of a biopsy being taken from a patient.
Dr Simon Paine, Consultant Neuropathologist at NUH, explains: "We're using this technology to work out what sort of brain tumor a patient has. Currently that process takes several weeks and involves us sending tissue away to London. With Nanopore we can do this in real time, in the operating theatre whilst the patient is undergoing surgery...read the full story here.
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| NHS Genomics Healthcare Summit 2024 | |
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National School of Healthcare Science and Genomics Education Programme review | |
NHS England has commissioned an independent review of the National School of Healthcare Science (NSHCS) and the Genomics Education Programme (GEP). The review team is eager to hear about your experiences with the NSHCS and/or the GEP. Whether you're a current or former trainee, an education provider, a training officer, an employer, or someone who has engaged with these programs for Continuing Professional Development, your feedback is invaluable. They also welcome the perspectives of patients and the public. You can choose to complete the survey for the NSHCS and/or the GEP. Each survey is expected to take 20–30 minutes to complete. Please allow time to complete the survey in one go. The survey will not save your answers until you submit. Both surveys close on 25 November 2024. | |
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| November/December awareness dates | |
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November - 19th - International Mens Day, World COPD Day
- 20th - World Pancreatic Cancer Day
- 22nd - Emanuel Syndrome Awareness Day
| | December - 1st - 7th - Crohn’s and Colitis Awareness Week (R15)
- 3rd - International Day Of Persons With A Disability
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Spotlight on...Lung Cancer
We are participating in the national circulating tumour DNA (ctDNA) pilot, which is employing a liquid biopsy to support the early diagnosis of lung cancer, including for patients who cannot have a tumour biopsy. Healthcare professionals can find out more, including how to take part, on our website. The below patient information video is also available on our website along with other resources. | | |
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| The Road to Genome Podcast: Series 3 concludes | |
The final two episodes of the current series feature engaging and insightful interviews with Genetic Counsellor and Genomics England Clinical Director, Amanda Pichini, about her genomics journey and current role and focus, including the Generation Study. Episode 6 features Chris Hind, Chair of our own Public and Patient Involvement (PPV) Panel. Chris discusses his Haemochromatosis and the power of the patient voice. You can listen to all episodes here or wherever you get your podcasts. | | | |
Other genomics-related podcasts: | |
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Our Genomic Laboratory Hub (GLH) Education and Training team have been raising awareness of the exciting range of careers in genomics and laboratory science. They were at the Anglia Ruskin University Careers Day on 17 October, Cambridge University Life Science Fair on 4 November, and University of Suffolk Careers Fair on 5 November. If you have an event coming up and would like us to attend with an East Genomics stand (with a laboratory, careers or education and training focus) please do get in touch.
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Inside the virtual reality laboratory
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The Genomic Education Programme's Genomics Training Academy (GTAC) have delivered Virtual Reality (VR) technology and kits to genomic laboratories across the country, including our labs at Cambridge University Hospitals and Nottingham University Hospitals. The VR kits are designed to train staff on laboratory procedures without them having to go into a physical laboratory. This means that more learners can view a process at once than would otherwise be possible within limited laboratory space. The VR resource is not designed to replace hands-on training within the laboratory, but is complementary to it. Find out more on the GEP website. | |
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Sample Storage after Reporting | |
DNA / RNA / cDNA / Lysed cells Sample Storage The East GLH follow the RCPath Guidelines (RCPath, 215) and all samples will be retained and stored appropriately and securely for 30 years. After this point, samples will be confidentially and appropriately disposed of by the laboratory.
Fibroblast Storage Cultured Fibroblasts are stored appropriately and securely for 10 years as pre-arranged with users requesting this service. After 10 years the samples will be confidentially and appropriately disposed of.
See more on sample requirements on our website here.
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| ClinGen publishes data on over 2700 genes relevant to genetic diseases | |
The Clinical Genome Resource (ClinGen), a National Institutes of Health (NIH)-funded resource that works to define the clinical relevance of genes and variants, has published data on more than 2,700 genes curated for relevance to genetic diseases, including cancer, cardiovascular disease and neurodevelopmental disorders. A new publication in the journal Genetics in Medicine, describes the methods of genomic curation and the development of software and infrastructure needed to support the ClinGen global consortium capable of large-scale evidence-based curation...read the full story here. | |
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Drugs for advanced breast cancer could help patients with rare condition | |
A trial has found that drugs targeting advanced breast cancer could be beneficial for patients with a rare cancer that affects parts of the digestive system. Tucatinib and trastuzumab work by blocking a protein known as human epidermal growth factor receptor 2 (HER2) in cancer cells to stop them from growing or spreading. The drugs are recommended by the National Institute for Health and Care Excellence (NICE) as an option for patients with HER2‑positive locally advanced or metastatic breast cancer who have had two or more anti‑HER2 treatment therapies....read more here.
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Rare disease genomic testing in the UK and Ireland: Promoting timely and equitable access | |
In a position statement launched in October 2024, the Association for Clinical Genomic Science Rare Disease Position Statement Working Group provide recommendations regarding the delivery of genomic testing to patients with rare disease in the UK and Ireland. The statement has been developed to facilitate timely and equitable access to genomic testing with reporting of results within commissioned turnaround times. Find out more.
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| Cancer Research UK publish report on Genomics for cancer research and care | |
The report, Sequencing Success: Genomics for cancer research and care is available to read here. With a further analysis in this article. The Cancer Research UK Policy Development team develops evidence-based policy to inform government and health leader decisions related to the cancer research and science environment. ‘Sequencing Success’ sets out their recommendations to help ensure cancer patients have the opportunity to benefit from the use of genomics in cancer diagnosis, care and research now and in the future. CRUK spoke to people affected by cancer, researchers, health and industry professionals, policymakers, academics, and charities in compiling the report. If you have any questions, please contact emily.eagles@cancer.org.uk.
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Genomics releases new research showing significant link between genetic risk and obesity | |
Genomics' latest groundbreaking research, showcased at the Bupa Health Symposium, shows that a person's genetic background is a key driver for their BMI and therefore is crucial to understanding their risk of obesity. This new research shows that from a young age, a person's BMI is strongly correlated with their genetics, as measured using polygenic risk scores (PRS). The influence of genetics on BMI becomes more pronounced into young adulthood and middle age. Find out more.
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INVISIBLE: why we need more diverse voices in healthcare research | |
We know that diverse ethnic groups are under-represented in health research, which can mean healthcare treatments and services are less safe, accessible, and effective for these groups. To address this, eight health charities came together to work with Egality, two community organisations, and eight people with lived experience to co-produce an awareness raising film. Their collective aim is to increase the number of people with lived experience from diverse ethnic groups who are actively involved in health research and ultimately improve health treatments and services.
The spoken word film focuses on why diversity in PPI and in health research matters for people, families, and communities. The film was produced by produced by FreshRB CIC, with spoken word written & performed by Duke Al-Durham.
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Events, education and training | | |
| Save the Date: CGS Conference 2025
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From 11 - 12 March 2025, the Clinical Genetics Society will hold their annual conference at Crowne Plaza Royal Victoria Sheffield. Find out more here. | |
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The Festival of Genomics & Biodata | |
Registration is now open for The Festival of Genomics & Biodata (FOG) in London, on 29 – 30 January 2025. Last year’s record attendance saw FOG become the UK’s largest life sciences event, and this year organisers are expecting over 7,000 people to join them at the ExCeL. Among the confirmed speakers are our very own Nursing Lead, Anita Murphy and Midwifery Lead Jo Hargrave. | |
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Genetics & Genomics: What Midwives need to Know | |
This CPD day is for midwives or those working within maternity services within the East Genomics region, who wish to gain an insight into how genetics and genomics can support the care of the pregnant person, fetus or newborn, and the wider family For more info, please see event the flyer. | | - 27 February 2025, 9.30am - 4.30pm
- University of East Anglia, Norwich
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Our Forums, Networks and Teaching Series | |
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Our next Paediatric Genomics Forum on Thursday 23 January 2025 will look at why it's important to obtain parental samples for whole genome sequencing, featuring guest speaker Isobelle Delon, Head of Rare Disease Service at Cambridge Genomics Laboratory. Register your free place here.
- 20 November Cutaneous - T cell lymphomas
- 4 December - Mixed phenotype acute leukaemia
- 18 December - Extra-cutaneous T cell lymphomas 1
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New Familial Hypercholesterolaemia MOOC | |
In collaboration with the North East and Yorkshire GMS, North Thames GMS have worked with the national Genomics Education Programme, the University of Northumbria and experts from the field to support the creation of a new Massively Open Online Course for Familial Hypercholesterolaemia via the FutureLearn platform. The online course is designed for healthcare professionals actively involved in the care of patients with Familial Hypercholesterolaemia, particularly those wanting to develop their knowledge of the role and delivery of genetic testing. See more details, including how to join, here. | |
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We're at RAREfest24 this month | |
If you're coming to Cambridge Rare Disease Network's annual RAREfest on 22-23 November, don't forget to have a genomics chat with us! The Festival kicks off on the Friday with an evening of music, performance, comedy, talks and innovative research inspired art to challenge perceptions, dispel myths and imagine the possible. You can see us, and many other organisations, at the Interactive Exhibition the following day at the Guildhall in Cambridge. 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:
Our Communities of Practice: | | 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 transformation/pilot projects and wider education and engagement should be directed to the East Genomic Medicine Service Alliance (East GMSA) at egmsa@nnuh.nhs.uk
You can follow us on Twitter, connect with us on LinkedIn and subscribe to our YouTube account. 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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