Rare diseases

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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#GenomicsConversation spotlight on… Genetic Counselling and Genomics

Spotlight on…Genetic Counselling #GenomicsConversation Genetic Counselling and Genomics This week is the national #GenomicsConversation week of action, part of a campaign launched by the Genomics Education Programme (GEP) to dispel the myths, explain the facts and outline the clinical impact of genomics. At London South we will be sharing a series of interviews with different health …

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RARESUMMIT19 RARESUMMIT19 is a 1 day summit focusing on patient-centricity in Rare Disease progress   The aims of RAREsummit19 to highlight exemplars of patient involvement to provide a toolkit of practical strategies to help educate, inspire and empower all rare disease stakeholders to give stakeholders the knowledge and skills to ensure their practices involve patients …

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Next steps for genomic medicine in the NHS – regulation, challenges for adoption and priorities for research

A Westminster Health Forum Keynote Seminar exploring the main issues for the NHS Genomic Medicine Service, including regulation, challenges for adoption and priorities for research.   Delegates will discuss the priorities for evaluating the evidence and sharing learning from the 100,000 Genomes Project – with the Project aiming to have completed sequencing by the end …

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Genomic Medicine Lunch & Learn

Are you an NHS professional looking to advance your skills in Genomics?   Join us on Tuesday 26 June or Wednesday 27 June to find out more about our postgraduate courses and modules in Genomic Medicine at our informal Lunch and Learn talks. Our Genomics course follows a curriculum designed by Health Education England 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.
From April 2019 the interactive test ordering tool will be integrated into the National Genomics Informatics System (NGIS) and clinicians will be able to directly order tests online.