Rare diseases

SE Genomics Autumn Festival

We are keen to promote our second upcoming virtual event – SE Genomics Autumn Festival. Speakers will provide an overview of how the latest developments in genomics are impacting cancer care and share their expertise on different cancer genomics pathways and the tests available. Register now via Eventbrite and please share with your networks as …

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#GenomicsConversation week 2022

#GenomicsConversation week 2022 Genomics Conversation week is a yearly event organised by Health Education England’s Genomics Education Programme to spark a  conversation about genomics and increase healthcare professionals’ familiarity with the topic. Join us this Genomics Conversation week in the South East where we will talk about genomics and share various examples of  how it …

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Westminster Health Forum: Priorities for rare disease research, diagnosis, and care in the UK

This online Westminster Health Forum conference will discuss the next steps for rare diseases policy in the UK. Delegates will assess: the Rare Diseases Framework –  priorities going forward if its ambitions are to be delivered, as well as progress during it first year the impact of the pandemic the role of genomics in improving diagnosis …

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TSC Clinics Education Meeting 2021

  Tuberous Sclerosis Complex (TSC) is a rare genetic condition that affects around 1 million people worldwide.   The TSC Clinics Education Meeting is an opportunity to speak and learn from TSC Clinic professionals from across the UK. The meeting aims to encourage a consistent quality of care in TSC  and push forward our understanding …

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Critical incident affecting genomics tests from Viapath

The issues with our IT systems have now been resolved  and our laboratory is processing all tests and referrals sent to us.

Please be aware that as normal services resume you may experience some delays to receiving results and the reports may look different.

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.