whole genome sequencing

New research published today showcases the importance of whole genome sequencing for our cancer patients

Everyday patients benefit from genomic testing. New research published today shows how important genomics has become in the treatment of cancer. The findings, published today by Genomics England in Nature Medicine, show just how much doctors and scientists have learnt over the past 5 years about how genetics can influence cancer and inform how we …

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Mel Dixon talks about her two children who both have a rare genetic condition, thanks to a change to the DHDDS gene.

One Mum’s story

Mel & Charlie have three children, Tom, Harry and Rosie. Whole Genome Sequencing identified that both Tom & Rosie have the same ultra rare DHDDS gene mutation. These mutations cause symptoms such as learning difficulties, tremors, myoclonus and seizures all of which can range from mild to severe. As the DHDDS gene was only decided …

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All your questions about ordering Whole Genome Sequencing for rare diseases answered

If you have questions about how to order Whole Genome Sequencing for your patients with suspected rare diseases, then drop into our online sessions and get the answers. The South East Genomics team will be available to answer all your questions on July 7th from 11 – 11:45am. Do you need support to navigate your …

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Dixon family having fun on a giant swing

Discovering our children have a rare genetic mutation has opened new doors for the future

Mel & Charlie have three children, Tom, Harry and Rosie. When they were born, both Tom and Rosie didn’t learn to speak quite as quickly as their friends, and both were diagnosed with mild learning difficulties and Dyspraxia, which affects their co-ordination, when they were at primary school. “I started to notice that they were …

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Whole Genome Sequencing: Decoding the Language of Life and Health

Join Health Education England to learn how whole genome sequencing (WGS) works and what it could mean for the future of healthcare with this free 3 week course, starting 18th October. This course has been designed for healthcare professionals and science/medical students who have limited or no understanding of the whole genome sequencing process and …

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With any Whole Genome Sequencing (WGS) test ordered, a Record of Discussion (RoD) form will also need to be submitted. This document is to record the patient’s consent for genomic testing and their choice on taking part in research. Guidance on the patient choice conversation can be found here
 
This RoD form will be available for clinicians to download from this webpage. Once completed with the patient, it can be send to the lab with the corresponding test order form and sample.
Tests available to order will be listed in the National Genomic Test Directory. A test order form will soon be made available for clinicians on this webpage to download and complete. This form will include the address of the laboratory that the appropriate sample and completed form needs to be sent to.
 
Until the new Genomic Laboratory Service goes live, please continue to follow existing test order processes.
 
Later this year, the online test ordering tool for Whole Genome Sequencing will be integrated into the National Genomics Informatics System (NGIS) and clinicians will be able to search or filter to find a clinical indication, confirm eligibility criteria and start the test request process for their patient.