East Genomics
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Study shows whole genome sequencing improves diagnosis of rare diseases for patients
The pilot study of rare undiagnosed diseases involved analysing the genes of 4,660 people from 2,183 families, including hundreds of patients from Addenbrooke's hospital
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Pilot study reveals the benefits of 'whole genome sequencing' for children with cancer
Study of 36 children at Cambridge University Hospitals NHS Foundation Trust has shown the WGS can give a more accurate diagnosis or reveal new treatment options
Pilot study reveals the benefits of ‘whole genome sequencing’ for children with cancer
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Regional Genomics Survey launched
Healthcare professionals across East of England and East Midlands encouraged to complete survey to help ensure equity of access to genomic testing
Regional Genomics Survey - deadline extended!
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National Genomic Test Directory update
On 4 October, updates to the National Genomics Test Directory were made live on the NHS England website.
The update (the first of three updates expected before April 2022) includes new and amended tests on both the Rare and Inherited Disease Test Directory and eligibility criteria, as well as the Cancer Directory
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Whole genome sequencing improves diagnosis of rare diseases and shortens diagnostic journeys for patients, according to world first study
A world-first scientific study has shown that whole genome sequencing (WGS) can uncover new diagnoses for people across the broadest range of rare diseases investigated to date
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Pilot study reveals the benefits of ‘whole genome sequencing’ for children with cancer
Study of 36 children treated at Cambridge University Hospitals NHS Foundation Trust has shown that whole genome sequencing can give a more accurate diagnosis or reveal new treatment options
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Whole Genome Sequencing helps doctors treat Daniel’s rare cancer
Sport-loving schoolboy Daniel is back on the football pitch following precision treatment of a rare kidney tumour
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National Genomic Test Directory update
On 4 October, updates to the National Genomics Test Directory were made live on the NHS England website.
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Multi-award winning Jean-Christophe Novelli reveals how genomic testing helped his family
Jean-Christophe Novelli and his wife Michelle spoke today at East GLH of how genomic testing for their son Valentino helped them find the right treatment and plan their future life.
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Genome sequencing hope for families seeking diagnoses and treatment for rare disease
Thanks to whole genome sequencing, doctors were able to diagnose Eleanor quickly