genetics

ERN GENTURIS webinar: Pheochromocytoma and paraganglioma

ERN GENTURIS webinar: From Li-Fraumeni to heritable TP53-related cancer syndromes

From Li-Fraumeni to heritable TP53-related cancer syndromes In this ERN GENTURIS webinar Prof. Thierry Frebourg, head of the department of genetics of the Rouen University Hospital, will focus on Li-Fraumeni and heritable TP53-related cancer syndromes. He will discuss which patients should be tested for TP53, how germline TP53 variants should be interpreted and what the …

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Neurogenetics Teaching: The Genetics of Movement Disorders

Join the first online event from the Neurogenetics Teaching Programme for 2020-2021.   Speaker: Dr Mankad, Clinical Lead for Paediatric Neuroradiology at Great Ormond Street Hospital for Children Register via the Eventbrite page using your NHS or university email address.

Working with Protozoan Parasite Database Resources Virtual Course

This course aims to provide experimental biologists working on protozoan parasites with hands-on experience in genomic-scale data analysis. The programme will include lecture and practical computational sessions covering the following topics: Visualisation of sequence features and next generation sequencing data using the Artemis genome browser and annotation tool Genome browsing and comparative genomics (ACT and …

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Genetic Analysis of Population-based Association Studies Virtual Course

This advanced course aims to give researchers involved in genetic disease studies a firm grounding in the use of the latest statistical methods and software for analysis of genetic association studies. The programme will include lecture, discussion and computer-based practical sessions covering the following topics: Introduction to genetic association studies Basic association analysis and meta-analysis …

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Clinical & research models in Genomic Medicine

How do we “do” consent? Clinical & research models in Genomic Medicine

HOW DO WE ‘DO’ CONSENT? CLINICAL & RESEARCH MODELS IN GENOMIC MEDICINE: 100,000 GENOMES PROJECT AND BEYOND   In this webinar, Prof Christine Patch will talk through what has been achieved in the “patient choice” process of consent developed during 100k Genomes and reflect on the challenges of creating an ethically robust research ecosystem as …

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Cancer Genetics Course 2020

Cancer Genetics Course 2020

What is Guy’s Cancer Genetics course? This 4-day course covers a breadth of topics pertinent to the rapidly moving field of genomics, impacting all areas of healthcare. We will equip you with the basics of cancer genetic counselling, approaches to genetic testing, management of hereditary cancers and a consent taking workshop, covering a variety of …

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European Human Genetics Conference 2020

European Human Genetics Conference

At the 53rd annual European Human Genetics Conference you can learn about what is at the forefront of human genetics whilst considering the education of the next generation of human geneticists. There will be a range of speakers and abstracts for presentation during the conference as well as educational sessions given by invited speakers to …

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Genomic Variant Interpretation Course

Genomic Variant Interpretation Course

The University of Manchester (UoM) have launched a new continuing professional development (CPD) course, funded by the HEE, which provides an introduction to the tools and procedures used in the interpretation of genetic variants in the clinical setting. This free course is aimed at Consultant Clinical geneticists, Genetic Counsellors (who have not undertaken STP training), …

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Covid update- NEWS

Genomics Laboratory Services and COVID-19 Business Continuity Plan

Genomics Laboratory Services and COVID-19 Business Continuity Plan Re: Genomics Laboratory Services and COVID-19 Business Continuity Plan Dear Service User I am writing to inform you of our current situation concerning the mobilisation of the South East Genomics Laboratory Hub operating model. As you are aware the NHS is dealing with unprecedented pressures and the …

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Genomics of Rare Disease Conference

Genomics of Rare Disease

Wellcome Genome Campus is holding a 3 day conference on rare disease, presenting a blend of genomic science and clinical medicine. The programme features the latest findings related to the genomic basis of rare diseases, providing powerful insights into human biology, disease mechanisms and therapeutic approaches. As genomic sequencing becomes more available in the hospital …

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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.