Rare diseases

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Virtual Cancer Genetics Course 20/21

Online , United Kingdom

    What is the Virtual Cancer Genetics Course? This virtual course will teach the core concepts of risk stratification using family history as a tool to enable patients to access appropriate management strategies. Participants will be equipped with the basics of cancer genetic counselling and sessions will include approaches to genetic testing, management of […]

Clinical cases and Michael Feiwel lecture: New treatments for patients with genetic skin diseases

Online , United Kingdom

This RSM webinar will explore clinical cases and present the Michael Feiwel lecture. The lecture will cover recent innovations and new treatments that dermatologists can offer patients in their own clinics.   This webinar will cover:  The diagnosis and management of some of the rarer and more unusual dermatology conditions and unusual presentations of common dermatological problems […]

The unusual suspects: Rare disease in everyday medicine

Online , United Kingdom

Medics 4 Rare Diseases and the RSM bring together a faculty of top speakers to explore how rare diseases are relevant in everyday clinical medicine. The rare disease and genomic field is changing rapidly and continuing medical education is desperately needed in order to make full use of new innovation and therapies.   The live […]

Genomics of Rare Disease (Virtual Conference)

Online , United Kingdom

Exploring how genomic research translates into clinical care and informs our understanding of the biology of rare disease Join the Wellcome Genome Campus UK virtual conference to explore how cutting-edge genomic research translates into clinical care and informs our understanding of the biology of rare disease. Topics will include: What’s new in rare disease? Functional […]

TSC Clinics Education Meeting 2021

Online , United Kingdom

  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 […]

#GenomicsConversation week of action 2021

Online , United Kingdom

Join the GEP for a national week of action to get healthcare professionals talking about genomics   The genomics conversation is an annual week of activity to raise awareness of genomics among health professionals. Join us 28 June-2 July for a number of free activities and resources, including events, new podcasts, online courses and educational […]

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

Online , United Kingdom

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 […]

Recurring

Let’s Talk: Genomics Medicine Across a Lifetime

Online , United Kingdom

Genomic tests are already available in the NHS for use in many childhood and adult cancers, inherited disorders and rare diseases, and more tests are becoming available every year through the NHS Genomic Medicine Service. To make sure everyone for whom genomics is appropriate can access the tests that are right for them, it’s important […]

SE Genomics Autumn Festival

via Microsoft Teams , United Kingdom

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 […]

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

via Microsoft Teams , United Kingdom

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 […]

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.