East Genomics reposted this
Working with partners and patient groups, we have developed the Rare Disease Education Hub, a resource for healthcare professionals with an interest in learning more about #RareDiseases, their diagnosis and treatment: https://buff.ly/48Y7Vo3
Hundreds of babies have begun to be tested for over 200 rare genetic conditions as part of a world-leading Genomics England study in NHS hospitals. The aim of the study, which has started in 13 hospitals across England, is to identify treatable conditions earlier, giving families access to support, diagnosis and treatment options that could improve, prolong and potentially save lives. The study ultimately aims to test up to 100,000 babies across 40 NHS hospitals in England. The BBC's Fergus Walsh is covering the story today: https://lnkd.in/epig6YDg You can read more about the Generation Study on our website, plus access further links and resources for healthcare professionals and patients and the public wanting to know more: https://lnkd.in/euqPAa-K #Newbornscreening #raredisease #NHS #genomics
We're looking forward to exhibiting at Nursing Live UK later this month alongside NHS Central and South Genomics and NHS South West Genomic Medicine Service. We'll be in Liverpool on 22nd and 23rd October to discuss all things #genomics with nurses from across the UK. If you're interested, you can register your place here: https://nursinglive.com
Having some great genomics conversations at University Hospitals of Leicester NHS Trust Community Health Festival, which is underway now at Devonshire Place in Leicester. There are free health checks, screenings, and healthcare advice from a range of UHL experts. Plus East Genomics colleagues Jo and Ian who will be more than happy to have a chat about all things genomics! #genomics #genetictesting #cancer #raredisease
A huge thank you for all you’ve done to support and progress genomics in rare disease in our region, Kate. You will be missed and we wish you all the very best and your new role.🙏
It’s nearly five years since I joined the NHS and I am soon moving roles. Therefore, I have been reflecting on the key work we have done in the East Genomics region to ensure equity of access for genomic testing for all patients within NHS England We have: 🧬Introduced a comprehensive NGS strategy for delivering both single gene, small and large gene panels for both small variants and CNV 🧬Started to submit reported variants into ClinVar 🧬Established a thriving education and training program for the technical and scientific workforce at all levels 🧬Introduced a high throughput SNP array system for CNV analysis with work ongoing to consolidate the wet lab work across the GLH 🧬Established distributed analysis and reporting processes for both NGS and arrays across the East GLH labs 🧬Moved the Cambridge University Hospitals NHS Foundation Trust lab tracking and reporting to EPIC beaker - the hospitals electronic record system 🧬Established cloud based bioinformatics pipelines 🧬Introduced whole genome sequencing testing for heterogeneous conditions 🧬Worked with the IBMS to develop a Specialist portfolio for Genomics and Molecular Pathology There is loads more to do, but sometimes it’s good to take stock and realise how far you have come 🧬🧬🧬🧬🧬🧬🧬🧬🧬🧬🧬🧬🧬
This month there are some important changes in the Rare and Inherited Disease Genomic Test Directory concerning testing criteria for patients with developmental disorders. The changes cover: - Intellectual Disability - Congenital Malformation and Dysmorphism Syndrome - Ordering Whole Genome Sequencing (WGS) Find out more about the detail on our website: https://lnkd.in/eAY4sMHZ These changes will be looked at in detail at our next East Paediatric Genomics Forum on 26 September. You can register your free place here: https://lnkd.in/eXmwwVc8
Over the next few weeks and months we'll be on the road, with information stands (not to mention friendly, helpful staff!) at a number of events, including: - University Hospitals of Leicester NHS Trust Annual Public Meeting on Tuesday 24 Sep Norfolk and Norwich University Hospitals NHS Foundation Trust Annual General Meeting on Wednesday 2 October - Cambridge Rare Disease Network (CamRARE) RAREfest event on Saturday 23 November If you're at any of these, do stop by and say hi, and ask us anything you like about genomics / genetic testing! If you work in NHS services in the East Midlands or East of England and have events or open meetings coming up, please do drop us a line as we'd love to come along to engage people around how genomics is/could be benefitting their patients and services, as well as how we can support education and training, pathways and more.
🚵♂️ This Sunday 100s of UK genetic professionals are getting on their bikes to raise money for Unique and SWAN UK who support families with rare genetic conditions. Details of Nottingham and Cambridge rides are on our website, as well as how you can support: https://lnkd.in/e2pBTzEx Last weekend our Patient and Public Voice (PPV) Vice-Chair Eddie Blair took part in Prostate Cancer UK's Big Blue 40-mile Bike Ride to help raise funds to support the continued development of advanced diagnostics and treatment for prostate cancer. Eddie's JustGiving page can be found here: https://lnkd.in/eKc4yPmM
