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Curating the Clinical Genome

May 20 @ 12:30 pm - May 22 @ 1:30 pm

Curating the Clinical Genome Conference

The conference brings together the clinical genomics and biodata community to discuss best practices for the clinical use of genomic data, including interpretation and clinical utility, and the consensus generation of curated knowledge.

The sharing of genetic data from clinical diagnostic testing and the generation of consensus curated knowledge is vital for delivering on the promise of genomic medicine. The growing recognition of the power of global data sharing has led to major initiatives being established, typically on a national or regional scale. The focus of this meeting is to bring together these initiatives, to develop common standards, share best practices, integrate the latest research findings and drive patient benefit.

Topics include:

  • Data sharing
  • Direct-to-consumer testing in healthcare
  • Polygenic risk scores across populations
  • Examining penetrance in UK Biobank
  • Neonatal screening
  • Functional assays to aid variant interpretation
  • Non invasive pre-natal testing and management of off-target findings
  • Molecular targeted therapies in cancer

More information can be found on the event page.

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.