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Welcome to our first update of 2025. The main news this month is an update to the Rare and Inherited Test Directory, which has implications for anyone ordering testing relating to cardiology, neurology, developmental disorders and inherited cancers. More on that below.
Here's what else we have for you this month: | |
Laboratory updates - January update the Rare and Inherited Test Directory
News and updates - Spotlight on nursing and midwifery
- Our Patient and Public Voice (PPV) Panel is looking for new members
- Genomics Training Academy
- New Genomics in Pharmacy resource
- Nephrology added to GeNotes
- Survey on communication skills
- Road to Genome podcast - Series 4
Research news Genomics England Research Summit - call for abstracts Study on treatment change in Hodgkin lymphoma New Centres of Research Excellence to develop advanced therapeutics for untreatable diseases
| | Events, education and training- Cambridge Genomic Medicine programme accepting applications
- Implementing Oxford nanopore sequencing in clinical practice
- Gene Therapy in Paediatrics
- Festival of Genomics & Biodata
- Genetics & Genomics: What Midwives need to know
- The Practical Application of Genomics
- Practical Genomics and Genetic Testing for the Non-geneticist
- Our Forums, Networks and Teaching Series
Quick links
Contact us | | | |
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January update to the Genomic Test Directory for Rare and Inherited Disease | |
Please be advised that a new version (V7.1) of the Rare and Inherited Disease National Genomics Test Directory was published earlier this month. The significant changes are: - Addition of R454 CYP2C19 testing for Mavacamten prescribing (samples to be sent to the South West GLH, Bristol Lab)
- Changes to eligibility criteria for R27, R28, R56, R58 (dementia), R137 and R297 (recurrent miscarriages)
- Amendments to criteria for inherited cancers for deceased affected individuals in tests R210, R211, R367 and clarification of R207, R211, R212, R213, R214, R215, R216, R219, R220, R358, R359, R225, R254, R422, R363, R364 and R365
- GPs can now request R176 for Gilbert syndrome
- Removal of R53 (Fragile X)
- Removal of array tests where whole genome sequencing is available R59.2, R69.3, R83.2, R84.2, R86.2, R87.2, R88.2, R89.2 and R100.2
Additional minor changes including clarification of R15, R29, R69, R131, R224, R367, R377, R414 and R430. Full details of all updates and changes can be found on our website here. | |
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Spotlight on Nursing and Midwifery | |
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Nurses, Midwives and Health visitors make up the largest clinical group working in the NHS. Nursing staff work across all specialities in all areas (primary, secondary, community and mental health) so it is crucial that they have good knowledge about genomics, including an understanding of its relevance to current practice.
Our Lead Nurse, Anita Murphy, and Lead Midwife, Jo Hargrave, are working with colleagues across our region to help engage, educate and embed genomics into Nursing and Midwifery teams in the East Midlands and East of England. Below you can read updates from Anita and Jo on some of their work in this area, and opportunities to get involved. | |
Anita - East GMSA Lead Nurse Across the East Midlands and East of England we are supporting the upskilling of the nursing workforce through a number of initiatives and activities. Firstly, we run bimonthly Nursing Link meetings which highlight areas of good practice, and allow us to share new research and updates with nursing colleagues. You can access slides and recordings from previous meetings, and see a schedule of future meetings here. If you are a nurse and would like to join this network, please get in touch with me: anita.murphy@nnuh.nhs.uk | | | |
We are also linking into Higher Education Institutes to support training opportunities. Looking ahead, I am planning a series of Lunch & Learn webinars following a ‘back to basics’ theme, to include patient stories. Finally, I am attending and presenting at nursing conferences, as well as running some education and engagement roadshows at Trusts across our region, which we have developed through connections we made at the Nursing Live event back in October. To discuss any of these areas with me, get in touch: anita.murphy@nnuh.nhs.uk. Finally, you can see previous issues of our Nursing and Midwifery newsletter on our website.
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Jo - East GMSA Lead Midwife For Midwives in our region we are running network meetings which are open to all. If you would like to join this network, or speak on any aspect of genomics as it relates to midwifery or maternity services, please do get in touch: Joanne.Hargrave@nnuh.nhs.uk.
We also run an East Genomic Prenatal Forum, with recordings and slides available on our FutureNHS workspace here. | | | |
We are hoping to run further sessions in 2025, so if you are a midwife, genetic counsellor, obstetrician or work in another related role, and you would like to host a session, please do get in touch to discuss your idea.
If you are a midwife you might be interested in our Midwives in Genetics and Genomics (MiGGs) Network - recordings and slides from previous meetings are available here. If you would like to find out more, or join this network, please do get in touch with me.
The Genomics-England led Generation Study is picking up pace in our region, with more Trusts coming on board to recruit families into the study, which is using whole genome sequencing to look for changes in genes linked to more than 200 rare conditions. Further information is available here.
Our Monogenic Diabetes in Pregnancy project recently closed, having produced some fantastic outputs including an e-learning module - which you can access by registering for an account on our e-learning platform (our e-learning site also contains other modules which may be of interest, including one on Rapid Prenatal Exome Sequencing). The team also produced some patient information leaflets.
Finally, we have our Post Registration Study Day for midwives on 27 February at the University of East Anglia, Norwich. You can find out more below. If you want to discuss any aspect of supporting the midwifery workforce to upskill and mainstream genomics within their clinical practice, please do get in touch with me: Joanne.Hargrave@nnuh.nhs.uk. | |
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Call for applicants to East Genomics Patient and Public Involvement (PPV) Panel | |
We are looking for new members of our Patient and Public Voice (PPV) Panel, to help ensure that patient and family experiences and voices are at the heart of our work at East Genomics.
We are looking for anyone who has experience of genetic testing on the NHS, either for themselves or someone they care for, across cancers and rare and inherited conditions. The only other criteria is that they live in the East Midlands or East of England. We are particularly keen to hear from people aged 18-30, and people from a minority ethnic background, although we welcome interest from anyone who meets criteria for the Panel.
If you have patients who might be interested in adding their voice and experiences to our work, please point them to our website where they can meet our current PPV Panel members and find out more about the role of the panel, or for an informal chat about the role and what it entails, they can contact our Communication and PPI Lead: Ian Kingsbury. | |
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Watch Loretta's story of a long 'diagnostic odyssey' before her eventual diagnosis of Fabry disease in adulthood. Loretta is one of our East Genomics PPV members. You can also hear from some of our other PPV members including: Eddie, Vaila, Laura, Rebecca and Chris. | | |
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Genomics Education Programme launch VR training | |
The Genomics Training Academy (GTAC) recently launched a virtual reality (VR) laboratory training programme in all seven NHS Genomic Laboratory Hubs (GLHs). Each GLH has received state-of-the-art VR headsets loaded with educational modules covering core laboratory techniques and procedures. | | | |
As part of the GTAC's model of hybrid education, the VR programme aims to supplement traditional training by providing immersive experiences that help learners gain confidence and knowledge even before entering the lab. Learners have responded positively to this innovative approach, noting its effectiveness in deepening their understanding of genomic laboratory techniques. You can read more in the GTAC’s news release. | |
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Genomics in pharmacy resource: have your say | |
In collaboration with pharmacy professionals across the NHS (incluidng our East Pharmacy leads Paul Selby and Aris Saoulidis), the Genomics Education Programme has produced a new resource to help pharmacists learn more about genomics and its impact on their practice. | | | |
Ahead of a full launch in spring 2025, the team are welcoming feedback on the resource via this short, anonymous form and would appreciate any comments or recommendations from pharmacy practitioners. Genomics in Pharmacy sits alongside other pages in the series, covering health visiting, midwifery, nursing and primary care. | |
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Nephrology added to national educational resource | |
Just before Christmas the Genomic Education Programme's flagship educational resource GeNotes was expanded with a new collection for nephrologists. Articles are split across two tiers: In the Clinic features clinical scenarios for use before or during a patient appointment, while the Knowledge Hub provides in-depth information on nephrology-related genomic conditions and technologies. Read more here. | | | |
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GEP survey - help shape the future of workforce training in genomics | |
Sticking with updates from the Genomics Education Programme, GEP will soon be developing a range of training in genomics communication skills for the healthcare workforce. You can help them shape the future of this training by completing a short, anonymous survey (should take less than 5 minutes), which you can access here. The survey closes on 31 January 2025. | |
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DNA raps, cancer genomics and Fragile X - in discussion with Professor Julian Barwell | |
Series 4 of The Road to Genome podcast is now available and opens with a brilliant interview with rapping Consultant, Clinical Geneticist Professor Julian Barwell about Fragile X, Cancer Genomics, his What is DNA book for children, and his rap about DNA. A man of many talents and a fascinating conversation.
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Genomics England Research Summit - call for abstracts | |
Genomics England are inviting abstracts for posters at their Research Summit on Tuesday 17 June 2025. Anyone submitting an abstract will need to state the Research Network community it relates to. Abstracts with a strong patient and public involvement and/or clinical impact will be favoured. The deadline date for submissions is Thursday 20 March 2025. Read the terms and conditions before submitting, and submit your abstract here. | |
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Study examines consequences of changing medication for Hodgkin lymphoma | |
A simple change to the chemotherapy regimen for people with Hodgkin lymphoma could reduce the long-term health impacts that can result from treatment, according to researchers in Cambridge. The findings could lead to the national guidance on chemotherapy treatment for these patients being revised.
| | Louisa, a patient who took part in the study, went on to have a second child after treatment: "Regaining my fertility was the most... incredible experience" | | | | |
It compares the lasting effects of two chemotherapy regimens used to treat Hodgkin lymphoma in younger adults. Hodgkin lymphoma is often diagnosed in younger people (age 20-40) so kinder treatments have the potential to deliver significant benefits, such as reduced hospital time and greater likelihood of recovering fertility. Read the full story here. | |
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UCL to work with UK and international partners to make rare genetic disorders treatable | |
The Medical Research Council, part of UKRI, is launching its first two Centres of Research Excellence (CoRE), which will develop transformative new advanced therapeutics for currently untreatable diseases. The new Centres will receive up to £50 million each over 14 years. The two new Centres will build on the huge progress that has been made in genomics – allowing the genetic basis of many diseases and processes to be identified – and advances in genome editing and other gene therapies, which have made it possible to develop treatments for previously incurable conditions. Read the full story here.
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Events, education and training | | |
Cambridge University Genomic Medicine programme accepting applications | |
Cambridge University's Clinical Medicine School and The Institute of Continuing Education (ICE) together deliver the NHS-commissioned Genomic Medicine programme. The deadline for application for entry in October 2025 is 31 January 2025. Learners can study:The part-time courses are designed to be studied alongside employment in the medical field, with new skills immediately applied in the workplace. NHS funding is available for qualifying staff. ICE will host an information session on the part-time options on 21 January 2025 from 6.30pm. Book your place here. | |
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23 Jan: Implementing Oxford nanopore sequencing in clinical practice | |
This webinar is for anyone with an interest in cancer genomics or long read sequencing technology. Genomics England in conjunction with NHSE have initiated a pilot programme to establish the clinical utility of Oxford Nanopore® (ONT) LRS for a subset of cancer patients. Find out more and register here. | |
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28 Jan: Gene therapy in Paediatrics | |
Gene Therapy in Paediatrics is an education day on Tuesday 28 January 2025 in London. The event will bring together healthcare professionals from across the UK who are working to improve the lives of children and young people. | |
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29 - 30 Jan: 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, Midwifery Lead Jo Hargrave and Primary Care Lead (East Midlands) Nadeem Qureshi. | |
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27 Feb: Genetics & Genomics: What Midwives need to know | |
Our upcoming CPD day, in collaboration with the University of East Anglia, is tailored for midwives or those working within maternity services within the East 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 unit.
| | 27 February 2025, Norwich | | | |
Learning outcomes: - fundamental principles of genetics and genomic and the relevance to maternity care pathways.
- key indications which warrant a referral to clinical genetic services.
- the role and responsibility of the midwife within genetics and genomics.
- sign-posting patients and clinicians to key resources to support information provision.
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13 Mar: The Practical Application of Genomics | |
A clinician’s guide: Improving diagnosis, treatment and outcomes through genomic medicine. A virtual conference on Thursday 13 March 2025. Find out more and register here. | |
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21 Mar: Practical Genomics and Genetic Testing for the Non-geneticist | |
This one day, face-to-face course aimed at doctors in training (especially medical and paediatric specialties), qualified general clinicians without a background in genomics education, clinical nurse specialists or midwives and pharmacists wanting to upskill in genomics, provides essential genomics knowledge and skills for everyday clinical healthcare. Participants will learn how genomic variation can contribute to disease, how to request appropriate genomic investigations, interpret genomic test results, talk to patients about genomic testing and incorporate genomic data into patient management plans. Book now. | |
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Our Forums, Networks and Teaching Series | |
Our Paediatric Genomics Forum series continues with:- 23 Jan: The Power of trio analysis: Why we should aim to obtain parental samples for WGS testing, featuring guest speaker Isobelle Delon, Head of Rare Disease Service at Cambridge Genomics Laboratory. Register here.
- 27 Feb: Imprinting Disorders, with guest speaker Veronica Govender, Consultant Community Paediatrician, Bedford Community Hospitals. Register here.
- 22 January - Plasma cell neoplasms part 2
- 5 February - T cell lymphomas 2
Slides and recordings from our recent Prenatal Genomics Forum session Spotlight on Bereavement care in Maternity Services which was delivered by colleagues from Norfolk and Norwich University Hospitals, are available on our FutureNHS page 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 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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