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The unusual suspects: Rare disease in everyday medicine

February 24 2021 @ 6:00 PM - 8:00 PM

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 streamed event will cover:

  • Understand that rare diseases are collectively common
  • Appreciate the common challenges that people with rare disease face in the journey to diagnosis and beyond
  • Value the lived experience that expert patients can share with you in order to improve their care
  • Promote the work of M4RD and the role of the Medical Genetics Section

Join in the conversation online using #M4RD2021

View the full programme and secure your ticket via the RSM event webpage.

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.