East Genomics

Our January newsletter is out now and features updates on: - The National Rare & Inherited Genomic Test Directory - Our nursing & midwifery work in the East Midlands and East of England, including opportunities to get involved in our networks - The latest news, updates and events from Genomics Education Programme, Cambridge University Hospitals NHS Foundation Trust, Genomics England, Medical Research Council, University of Cambridge Institute of Continuing Education, NEYGenomics, Great Ormond Street Hospital for Children NHS Foundation Trust, Front Line Genomics, Healthcare Conferences UK Ltd and many more. Read it here: https://lnkd.in/ekTWu88W Sign up to receive future editions here: https://lnkd.in/eB6YSijG See previous editions on our website: https://lnkd.in/ezjb2V9d

It's a Cracker! Series 4 of The Road to Genome podcast kicks off with a cracking interview with rapping Consultant Clinical Geneticist Professor Barwell of University Hospitals of Leicester NHS Trust. It's a New Year's treat and mic drop interview! Listen in: https://lnkd.in/egV6w7Cn or wherever you get your podcasts. #TheRoadToGenome #Genomics #NHS

We’re excited to invite you to join us on Tuesday 4th February for the launch of a new report detailing feedback from people who have been screened for a genetic condition called #LynchSyndrome.   We’ll be sharing how our unique approach enabled us to hear from a wide range of people who shared their honest experience of screening. Thanks to them, we now have six clear themes which we will share with you.   Join us as Emma Jenkins (who herself has Lynch syndrome) shares what people told us. We will also discuss how we can use this feedback to make improvements for others. You’ll also hear from our Lynch expert Dr Dimitra Repana MD PhD too. This is relevant to anyone who has been screened for Lynch syndrome, or who works with people with Lynch syndrome. Please share Helen White I Laura Monje-Garcia I Kevin Monahan I Surrey and Sussex Cancer Alliance I South East London Cancer Alliance I NHS Kent & Medway I The Eve Appeal I Bowel Cancer UK

Get involved in Rare Disease Day 2025 - we're looking for creative submissions! Rare Disease Day will be taking place on Friday 28 February 2025 and we are excited to share some of our plans with you! Genetic Alliance UK is looking for participants to get take part in ‘More than you can imagine: an anthology of rare experiences’. The anthology will bring together and share a wide range of experiences from the genetic, rare and undiagnosed communities through creative works such as poetry, stories, photos and drawings. The creative works can be inspired by the theme ‘more than you can imagine’, for example: - a poem about managing medication could be titled ‘more complicated than you can imagine’ - a drawing of friends could be called ‘more connected than you can imagine’ - a short story about medical appointments could be called ‘more waiting rooms than you can imagine’ The anthology will form a key part of our public awareness campaign, designed to raise the profile of genetic, rare and undiagnosed conditions in the UK. You have until 10 January to share your submissions, and be in with the chance of getting featured in the Anthology. Get involved today, and please help to share this opportunity with your creative (and also your not-so-creative) friends and family. 👉 https://ow.ly/SUqC50UuXSk

If you are a midwife, or work in maternity services within the East Midlands or East of England, you won't want to miss our 'Genetics and Genomics: What midwives need to know' course in partnership with University of East Anglia: 📅 Thursday 27 February 2025 🕤 9.30am - 4.30pm 📍 Queen's Building, University of East Anglia, Norwich The course fee is £125 and can be paid by card via the UEA online store, or you can request an invoice. See the course flyer for more information: https://lnkd.in/gQJQp-mj Register your place here: https://lnkd.in/eYpfPPKf

DIRECTORY UPDATE: The latest version of the National Genomics Test Directory for Rare & Inherited Diseases is live from today. Be sure to check the updates before ordering: https://lnkd.in/ennBtQjp NHS England

KEY UPDATE: The provision of genetic tests for CYP2C19 for Mavacamten prescribing has changed. Tests are now provided through the NHS Genomic Medicine Service labs in the North West and South West depending on location, and should be ordered directly. Find out more about making referrals from the East: https://lnkd.in/egXQfcUK

Calling all midwives! On 27 February 2025 we are running a 'Genetics and Genomics: What Midwives need to know' 1 day CPD course in collaboration with University of East Anglia at their Norwich campus. The day focusses on: - The core concepts of genetics and genomics - How to recognise genomic red flags - Maternal inherited conditions and how they can impact on pregnancy and birth - The role of the midwife in prenatal screening and diagnosis - An overview of applications to practice and the future of genomics in maternity services. Genomics is included in the The Nursing and Midwifery Council standards of proficiency for midwives. In addition, genetic testing is becoming increasingly prevalent and more accessible in healthcare. It's important that midwives are competent and confident to be able to advise and support women and their families in genomic conversations. It's therefore imperative that midwives understand genetics and genomics to improve equity of access and positive patient outcomes. Find out more via the CPD day flyer: https://lnkd.in/gQJQp-mj You can register your place (£125 course fee applies) here: https://lnkd.in/g5-FVmvy

Please be aware of our holiday closure arrangements affecting 24, 25, 26 and 31 December and 1 January. If you anticipate needing genomic testing services around these times please contact the team via email as soon as possible. Full details on our website: https://lnkd.in/eGXa4c_K Happy holidays, we look forward to working with you more in 2025.

A rare glimpse of some of the East GMSA team together at #NHSGenomics2024 Summit in London today. Emmanuel Mdu Ncube Lauren Capacchione Anita Murphy Eddie Blair Ian Kingsbury Katie Blakely Dick Sandford Chris Hind APFS ACII Maz O’Reilly Aris Saoulidis