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| Update on simplification of genomic testing for developmental disorders | |
As a result of recent changes to the national Genomic Test Directory for Rare Diseases, we have simplified test options for developmental disorders. Click here to find out more about: - Removal of R53 Fragile X clinical indication, and alternative tests
- Changes to clinical indications R27 (Paediatrics disorders) and R28 (Congenital malformation and dysmorphism syndromes-microarray)
- Which test you should be requesting, including a flowchart illustrating possible test requests for developmental disorders clinical indications.
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Inspiring young minds to become Healthcare Scientists | |
Rejoice Muduwa, Training Manager (Technical Programme) at our Cambridge Genomic Laboratory recently attended the Cambridgeshire & Peterborough Integrated Care System Health and Care Career Science Expo 2025 to engage enthusiastic year 10s and sixth formers about the many interesting careers in Healthcare Science. | | | |
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Registration for the Genomics Training Academy (GTAC) now open | |
Genomics Training Academy (GTAC) sign-up is now available. NHS specialist genomics professionals are invited to request a registration pack from the education and/or training lead of their genomic laboratory or clinical genetics unit. GTAC training materials are currently being developed and released in phases, with many still to come in the upcoming months. To date, GTAC has launched several cohort-specific resources, including virtual reality (VR) in all NHS Genomic Laboratory Hubs, Collaborate CPD webinars, and education packages for clinical genetics doctors in training and trainee clinical scientists. Visit the FAQs page or contact the GTAC administration team to find out more. | |
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| Have you joined a Genomics Communities of Practice yet? | |
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Last month we announced the establishment of 14 new Genomics Communities of Practice (CoPs) across a range of specialties and disease areas. This brings the total number of Genomics CoPs that we are supporting to 16 (see below for the full list.).
What is a genomics Community of Practice? A genomics Community of Practice is a regular pan-regional, multi-professional meeting and accompanying resource platform to support clinicians to incorporate genomics into their practice and improve patient pathways. Each Community of Practice is aimed at healthcare professionals working in a particular clinical specialism from across the East of England and East Midlands, and will include colleagues from across the patient pathway e.g. oncologists, pathologists, surgeons, geneticists, nurses, laboratory scientists, etc.
There will be a topic presented for educational purposes and facilitated group discussion to support peer learning/troubleshooting. Suggestions of topics and speakers will be drawn from the Community. All meetings will recorded and slides and other resources will be available via the Community of Practice resource platform. You can find more on our website.
When do they start? Each Community of Practice will be holding its first meeting in March or April, from 12.30pm - 1.30pm, kicking off this month with: How do I join a CoP? If you would like to be included on the circulation list for one or more of our Genomics CoPs, please register your details (or update them if you have already registered) via our online sign up form here.
If you select the 'I am a healthcare professional' option you will see a list of our CoPs, from which you can select as many as you would like to join. We will then send you the the relevant meeting series to add to your Outlook calendar. If you would like to know more, please email: cuh.egmsa@nhs.net | |
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New patient information resources | |
We have developed a new Cancer and genetics patient information leaflet for people who have received a cancer diagnosis, to make them aware of potential options for further genomic testing.
We will be contacting Oncology services within Trusts across the East Midlands and East of England to arrange for pull-up banners (pictured) to be displayed in patient areas, with a QR code linking to the new leaflet.
If you work with cancer patients and would like to request a banner for your patient areas, please contact our Communication Lead Ian Kingsbury.
Also new this month is a patient information video on the new ESR1 breast cancer test which is now available through the NHS Genomic National Test Directory. To support patient understanding of this test, the North West Genomic Medicine Service has developed an animation explaining the ESR1 test and its role in breast cancer care – please click here to view this. | | | |
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| NHS rolls out national genetic test to reduce risk of donor kidney failure | |
Hundreds of potential kidney donors of Black African and Black Caribbean heritage can now get a simple blood test to help reduce the risk of kidney failure. The test is part of national genetic testing available on the NHS and will help identify if potential donors carry genes that mean they have a high risk of kidney disease after donation.
The NHS plans to carry out around 160 tests a year to identify people with ‘high-risk’ variants of a gene known as ‘APOL1’, common in people of Black African and Black Caribbean, and the test will help clinicians assess donor suitability and future risk of kidney failure. Find out more here. | |
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Online hub launched to help patients understand Lynch syndrome | |
Airedale NHS Foundation Trust and Bradford Teaching Hospitals NHS Foundation Trust have teamed up to launch a digital resource for patients on diagnosing Lynch syndrome (LS). Lynch syndrome is an inherited condition that increases the risk of certain cancers, including bowel, ovarian and endometrial.
Funded by the West Yorkshire and Harrogate Cancer Alliance, the online hub, featured on both Airedale and Bradford Hospital’s websites, uses a series of videos and written information to explain more about LS and how the trusts test for it. Read more. | |
In our region, an LS patinet app was launched towards the end of last year to help people living with Lynch Syndrome monitor and manage their condition, alongside their treating clinicians.
The app, which can be downloaded from the Apple Store and Google Play, was developed by the University of Leicester, patients via national charity Lynch Syndrome UK, NHS East Genomics and app developer Instant Access Medical. Find out more. | | | |
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From pilot to permanent: how a hub service for identifying people at risk of familial hypercholesterolaemia got up and running | |
Over 90% of the world’s oceans remain unexplored. But before grabbing scuba gear, consider that in the UK, the same percentage of people with Familial Hypercholesterolaemia (FH) – a genetic condition that makes cardiovascular disease nine times more likely – remains undetected. | | | |
Affecting 1 in 250 people (approx. 240,000 in the UK), improving FH detection represents an important opportunity to help prevent cardiovascular disease (CVD).
Finding the missing 200,000+ people living with FH might once have seemed as improbable as mapping the ocean floor. It is difficult to distinguish the genetic condition FH from other causes of high cholesterol, such as lifestyle factors. However, the capability to utilise secure data from NHS electronic patient records and apply bespoke algorithms to it safely has developed significantly. What is now possible at NHS clinician’s fingertips is cost-effective risk stratification that flags cohorts of people at high risk of FH.
A solution for bridging the chasm of FH detection was put to the test by an East GMSA pilot project to remotely detect and manage possible instances of FH across Norfolk & Waveney via its digital FH Hub: an innovative project managed and delivered by a clinical nurse specialist in FH, Shelina Rajan and led by a secondary care consultant lipidologist at Norfolk and Norwich University Hospital, Dr Javier Gomez (both pictured). In its first 18 months, the FH Hub delivered remarkable results:- 141 patients underwent genetic testing, with 27 confirmed to have FH
- 692 patients were identified with secondary causes for high cholesterol.
- Without risk stratification, identifying the same number of FH cases would have required screening 6,250 people, a far greater strain on NHS resources.
- Identifying one positive FH case for every six genetic tests, which outperformed comparative approaches.
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Updates from the Genomics Education Programme | |
GeNotes has expanded with a brand-new Gastro-Hepatology collection, written and reviewed by gastroenterology and hepatology experts including co-chair of the GEP Gastro-Hepatology working group - and East GMSA Medical Lead - Professor Guru Aithal. | | | |
A set of 20 In the Clinic articles feature clinical scenarios designed to be used before or during a patient appointment, while the accompanying seven Knowledge Hub resources provide in-depth information on related genetic conditions. Read more on the GEP website. | |
To coincide with Rare Disease Day, GEP launched a collection of visual communication aids (VCAs) on its flagship GeNotes resource. They cover a variety of topics including inheritance and chromosome translocations, aim to help clinicians explain complex genomics concepts to patients more easily and effectively. Find out more. | | | |
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| Government release Rare Diseases Action Plan 2025 | |
The Department of Health and Social Care has released the fourth England Rare Diseases Action Plan, to implement the priorities of the framework. It reports on progress against the previous 36 actions, designed to tackle the priorities and cross-cutting themes of the framework. It also introduces 3 new actions for the year ahead (actions 37 to 39). All actions have been co-developed and are delivered by NHS England and other public sector health partners. DHSC action plans are developed with people living with rare conditions, including a patient advisory group convened by Genetic Alliance UK and the UK Rare Diseases Forum. | |
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If you're active on social media you will have hopefully seen lots of awareness raising activity on Rare Disease Day 2025 last Friday (28 February). Healthcare staff up and down the country donned their striped socks to #ShowYourStripes for Medics for Rare Diseases and show their support for their rare condition patients (including the Norfolk Community Health and Care NHS Trust community diabetes team, pictured below).
Genetic Alliance UK released a brilliant digital anthology of creative works by rare condition patients, called 'More Than You Can Imagine', which you can read here.
At Nottingham University Hospitals the NIHR Nottingham Biomedical Research Centre (BRC) had an information stand to engage staff and patients about their research and to raise awareness for Rare Disease Day. Thanks to all who took part on the day! | |
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| Labrador genetic research reveals new human obesity genes | |
New research in the journal Science reports the discovery of new genes linked to obesity and shows that genetic predisposition to obesity can be over-ridden through exercise and a strict diet.
Dr John Tadross from East Genomics contributed to this work, helping to show its relevance to obesity in humans. Led by researchers at the University of Cambridge, the study focuses on Labrador dogs but uses genomic resources to show the same genes are relevant to human obesity. Read the full story. | | | |
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The Government and NHS England are working together on a new National Cancer Plan. To help shape this plan, the Government has launched a Call for Evidence, open until 29 April. You can participate by completing the online survey.
This follows previous calls for evidence, including the 10-Year Cancer Plan (2022) and the Major Conditions Strategy. The Department of Health and Social Care (DHSC) has published a summary of past submissions, which will be considered in developing the new plan. The Cancer Plan team will also review relevant responses from the 10-Year Health Plan. The plan’s development will be guided by a Clinical Advisory Group, led by Professor Peter Johnson, and NHS England’s Patient and Public Voices Forum. For questions, contact Deborah.Robinson5@nhs.net. | |
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| Non-invasive prenatal testing PhD research | |
Olivia Stephens, Doctoral Researcher at the University of Leicester, is currently carrying out PhD research on non-invasive prenatal testing (NIPT). This is being conducted through interviews to investigate experiences of healthcare professionals working with NIPT. This research is part of her PhD project, funded through the Wellcome Trust Doctoral Training Programme in Genomic Epidemiology and Public Health Genomics. If you are interested in taking part in the study, or would like to know more, please contact Olivia directly. | |
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Genetic testing in pregnancy: what are the experiences of Black women and their families? | |
Are you a professional who discusses prenatal genetic testing with women and their families? Dr Michelle Peter is leading research into equitable access to prenatal genetic tests to identify how best to support women who are offered these tests during pregnancy. To take part, contact michelle.lowe@ucl.ac.uk or find out more here. | |
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Events, education and training | | |
Genomics and minority ethnic communities event, Leicester, 5 April 2025 | |
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We will be holding a large public engagement event at the Peepul Centre in Leicester on Saturday 5 April 2025.
Primarily aimed at people from minority ethnic communities (but all are welcome, including healthcare professionals) the event aims to continue conversations around screening and when genomic testing might be appropriate, early diagnosis, and equal access to testing across cancers and rare and inherited conditions.
We will have a range of sessions featuring clinicians and patient experts by experience, a health marketplace with information stands featuring many local and national organisations, groups and charities, plus lunch and activities for families, including arts-based activities, Henna art and much more.
Our event registration website is now live here. Please do share details of the event with patients as appropriate. | |
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Central and South Genomics | |
Our colleagues in the Central and South region have a couple of upcoming events this month, on Lynch Syndrome and Rapid prenatal exome sequencing (R21): | |
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12 Mar: Seldom Heard webinar - Gypsy, Roma and Traveller Communities | |
Ensuring that health services, research and education meet the needs of people from all walks of life is vital. To achieve this, patients, their families and carers, alongside health and care staff, all need to work together. This webinar on Wednesday 12 March is part of a series that explores working with seldom heard communities. The focus of this webinar will be working with Gypsy, Roma and Traveller communities and is for patients, carers and the public, as well as health and care staff who provide services, carry out research or are involved in education. | |
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17/18 Mar: Equality, Diversity and Inclusion (EDI) for Genomic Professionals 2025 | |
This online course is designed to highlight the fundamental approaches and limitations for professionals keen to ensure equality, diversity and inclusion in their genomic practice. The rate is £220, with discounts available for groups of 3 or more. It is aimed at any healthcare professional undertaking a clinical role in clinical genomics seeking a structured and taught course that they can apply to practice. Find out more and register here. | |
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19 Mar: North Thames Genomics Showcase | |
Join the North Thames Genomic Medicine Service for this special event, that will highlight projects, demonstrate the impact of genomic medicine on healthcare and offer an exciting look into the future of genomics in the North Thames area. Find out more and register here. | |
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| 20 Mar: Inherited Cardiac Conditons webinars | |
Our colleagues in the South East Genomic Medicine Service are running a series of webinars over the next three months on the subject of inherited cardiac conditions. Follow the links below to find out more, and register, for each session: | |
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| 21 Mar: Practical Genomics and Genetic Testing for the Non-geneticist | |
This one-day course is for doctors in training, qualified general clinicians without a background in genomics education, clinical nurse specialists or midwives, and pharmacists. Book here. | |
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| 21 Mar: Optimising pathways for investigating fetal anomalies and pregnancy loss | |
The EXPRESS team would like to invite you to a meeting on the key findings of the EXPRESS study and reflect on what has been learnt about the delivery of the rapid prenatal sequencing in the English GMS. The team will also discuss current issues in perinatal pathology and how they may incorporate triaging for sequencing and pathology into our pathways to enable equitable care for parents whose pregnancies end in stillbirth or are complicated by fetal anomalies. Find out more and register here. | |
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| 21 Mar: Haemato-Oncology Network of Excellence Webinar | |
North East and Yorkshire Genomic Medicine Service are hosting a Haemato-Oncology Network of Excellence Webinar on 21 March at 1pm-4pm. With an introduction from Professor Dame Sue Hill, this event will showcase the important work of six key projects within the network: 1. Rapid HaemOnc WGS, 2. Implementation of NGS Myeloma Testing Panel, 3. CHIP/CCUS Testing and Management, 4. Lymphoma Testing and Tissue Handling Pathways, 5.CAR-T Monitoring Services, 6. Telomeropathy Testing. | |
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| 1 May: Central & South Genomics Annual Summit | |
Central and South Genomics are holding their Annual Summit in Southampton on 1 May 2025. Attendees will hear about Central and South Genomics’ upcoming strategy for the next year, network with colleagues from across the region, get updates on ongoing work, and identify areas for collaboration. See the agenda, and book your place, here. | |
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| 8 May: NIHR Nursing and Midwifery conference | |
Open to nurses and midwives working across all health and care sectors, the full day event will celebrate the achievements of research minded and research active nurses and midwives and for those that are research curious to find out more about how they can become more involved in supporting, delivering and leading research. All details and the registration form are available on the registration site. | |
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| 9 May: Advancing Pharmacogenomics: Implementation, Innovation, and Engagement event | |
The next national meeting of the NHS Pharmacogenomics and Medicines Optimisation Genomic Network is being held on Friday 9 May 2025. This full-day event brings together leading experts, researchers, and patient advocates to explore the challenges and opportunities in implementing pharmacogenomics in clinical practice. Find out more about the agenda and speakers, and register your free place here. | |
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New course: The Role of Genomics in Primary Care | |
GatewayC, funded by the NHS and The NHS Christie Foundation Trust, has partnered with Cancer Research UK and the GEP to deliver a course on genomics in primary care. The one-hour e-learning module introduces genomics and its growing role in cancer prevention and treatment, offering guidance on effective patient communication and managing genetic risk levels. It covers inherited cancer predisposition syndromes, such as , and Lynch syndrome, focusing on associated risks and preventive strategies for primary care and providing tools to improve clinical decision-making and oncology patient outcomes. | |
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Upcoming Communities of Practice | |
Below are are some upcoming dates for our Genomics Communities of Practice: | |
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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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