diagnosis

#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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What does genomics mean for families? – iHV webinar series

The second in the “What does genomics mean for health visitors?” webinar series from the Institute of Health Visiting (iHV) and Genomics Education Programme (GEP). Highlights include. The importance of family history with practical tips and tools for asking about and recording family history including consideration of family dynamics, paternity, consanguinity, ethnicity, IVF, and reproductive …

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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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National workshop: From diagnosis of cancer to diagnosis of Lynch syndrome

  Workshops focused around the roles and responsibilities of local cancer MDT members in the Lynch syndrome testing pathway.   Lynch syndrome (LS) is an inherited condition caused by pathogenic variants in DNA genes which result in an increased risk of colorectal, endometrial, and other cancers. Increases risk of developing bowel cancer to up to 80% …

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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.