Wonderful talk this afternoon by Exeter Rare Disease regarding their rapid WGS service #ESHG2023

Phenomenal from Adam Jackson winning the early career award at #eshg2023!

Congratulations Lettie Rawling on winning the prize for ID 👏Exeter Med School Exeter Rare Disease ExeterGenomes James Fasham

Brilliant - well done Tim and team! Tim McDonald @RDESpecServices Exeter Med School ExeterGenomes

🌟Take a look at our new web page for the R14 Rapid Genome Sequencing Service 🌟 Eligibility criteria, test ordering process and background to how data are analysed 🧬 exeterlaboratory.com/genetics/genom… #GenomicsConversation South West Genomic Laboratory Hub NHS SW Genomic Medicine Service Alliance NHS Genomic Medicine Service

We are delighted to have been shortlisted for the prestigious HSJ Awards - the WGS service is truly transformational for children and families affected by rare genetic conditions University of Exeter NHS SW Genomic Medicine Service Alliance South West Genomic Laboratory Hub Unique NHS Genomic Medicine Service

We are delighted to have been shortlisted for the prestigious HSJ Awards – the WGS service is truly transformational for children and families affected by rare genetic conditions @royaldevonnhs University of Exeter ExeterGenomes #SWGenomics

ExeterGenomes fantastic NHS Genomic Medicine Service R14 service lead Karen Stals at #MDC23 describing how 20% of diagnoses made in NICU/PICU involved #RareDisease conditions on the Genomics England Generation Study newborn genomes conditions list. Royal Devon NHS NIHR Exeter Biomedical Research Centre (BRC)

Well done to all the good people The Quiet Site - Outdoor Accommodation R us..! for winning the Kings Award for Enterprise 2024. Well deserved!

Inclusion is one of our core Trust values and our diverse workforce is one of our greatest strengths. We believe very strongly there is no place for hate or abuse of any kind in our NHS.

The ACGS position statement: Rare disease genomic testing in the UK and Ireland: promoting timely and equitable access, is online jmg.bmj.com/content/early/… Collaborative best practice guidance involving Unique NHS Genomic Medicine Service Wales Gene Park Genetic Alliance GenQA (Genomics Quality Assessment) & others🧵

Thank you to all our co-authors and members of the ACGS Rare Disease Position Statement Working Group, and Sian Ellard and Taylor Lab for leading this work #Genomics @MirandaDurkie Professor Dame Sue Hill Caroline Wright Louise Fish Sarah Wynn Richard Scott @Kate_Sci Dom McMullan 💙

Great to see this finally in print JMG, ACGS Position Statement on #raredisease genomic testing in the UK & Ireland BSGM Newcastle University Faculty of Medical Sciences NCL_RareDisease Newcastle University Newcastle Hospitals

Delighted to see the ACGS position statement, promoting timely and equitable access to #RareDisease genomic testing, published in JMG! This collaborative effort provides essential best practice guidance across the UK & Ireland. A crucial step forward for patients. 🧵

Unique NHS Genomic Medicine Service Wales Gene Park Genetic Alliance GenQA (Genomics Quality Assessment) Sian Ellard Exeter Rare Disease Taylor Lab Professor Dame Sue Hill Richard Scott Genomics England Sarah Wynn Genetic Alliance UK Caroline Wright North East & Yorkshire Genomics BSGM

Today we celebrate the 5 year anniversary of the NHSE R14 service - that went live October 1st 2019🧬 The service has grown since then - now offering rapid testing to 1200 families per year by whole genome sequencing on the first NovaSeq Xp to be installed in the NHS 🧬⭐️🧬⭐️

🚨 ⚠️ Essential insights for all! Dive into the latest recommendations on genomic testing for rare diseases in the UK & Ireland. An enlightening discussion for any country with a state-funded centralized healthcare systems. Click here 👉 bit.ly/4dyMbRQ 🌍 👥 Sian Ellard

We’re delighted at Genomics England to be part of this work and supporting best practice in rare disease genomic testing. #teamgenomics

Thank you to the many clinicians, scientists, patients and families involved in the DDD study, Wellcome Sanger Institute Helen Firth Matt Hurles. A genetic diagnosis in rare diseases makes a huge difference to clinical management and patient outcomes, see: doi.org/10.1016/j.gimo…

Amazing coverage of DDD study on BBC News & BBC Inside Health, thanks James Gallagher. Genetic diagnosis changed management in 28% of patients. Humbling to hear about Jaydi's diagnosis & treatment, Exeter Med School Royal Devon NHS NHS SW Genomic Medicine Service Alliance Wellcome Sanger Institute bbc.co.uk/programmes/m00…