Amazing coverage of DDD study on BBC News & BBC Inside Health, thanks @JamesTGallagher. Genetic diagnosis changed management in 28% of patients. Humbling to hear about Jaydi's diagnosis & treatment, @ExeterMed @RoyalDevonNHS @SWGenomics @sangerinstitute

Thank you to the many clinicians, scientists, patients and families involved in the DDD study, @sangerinstitute @HelenVFirth @mehurles. A genetic diagnosis in rare diseases makes a huge difference to clinical management and patient outcomes, see: https://t.co/0aCfnZyUuR

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

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 👉 https://t.co/EK2acWP6io 🌍 👥 @EllardSian

Great to see this finally in print @JMG_BMJ, @acgs_news Position Statement on #raredisease genomic testing in the UK & Ireland @BritSocGenMed @NCL_medscience @NCL_RareDisease @UniofNewcastle @NewcastleHosps

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

@Unique_charity @NHSgms @WalesGenePark @GeneticAlliance @GenQA @EllardSian @RDExeter @taylorlabncl @CSOSue @Rich_Genomics @GenomicsEngland @swynn_unique @GeneticAll_UK @carolinefwright @NEYGenomics @BritSocGenMed

Thank you to all our co-authors and members of the @acgs_news Rare Disease Position Statement Working Group, and @EllardSian and @taylorlabncl for leading this work #Genomics @MirandaDurkie @CSOSue @carolinefwright @LouiseFish1 @swynn_unique @Rich_Genomics @Kate_Sci @dom_macski

The @acgs_news position statement: Rare disease genomic testing in the UK and Ireland: promoting timely and equitable access, is online https://t.co/rwujz5zKiz Collaborative best practice guidance involving @Unique_charity @NHSgms @WalesGenePark @GeneticAlliance @GenQA & others🧵

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.

Well done to all the good people @TheQuietSite for winning the Kings Award for Enterprise 2024. Well deserved!

@ExeterGenomes fantastic @NHSgms R14 service lead Karen Stals at #MDC23 describing how 20% of diagnoses made in NICU/PICU involved #RareDisease conditions on the @GenomicsEngland Generation Study newborn genomes conditions list. @RoyalDevonNHS @ExeterBRC

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 @UniofExeter @SWGenomics @SWGLH @Unique_charity @NHSgms

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 @UniofExeter @ExeterGenomes #SWGenomics

🌟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 🧬 https://t.co/RnFA39G73I #GenomicsConversation @SWGLH @SWGenomics @NHSgms

Brilliant - well done Tim and team! @T_J_McDonald @RDESpecServices @ExeterMed @ExeterGenomes

Congratulations Lettie Rawling on winning the prize for ID 👏@ExeterMed @RDExeter @ExeterGenomes @JamesFasham

Phenomenal from @adam_jackson89 winning the early career award at #eshg2023!

Wonderful talk this afternoon by @RDExeter regarding their rapid WGS service #ESHG2023