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Whole Genome Sequencing: Decoding the Language of Life and Health

February 10 2020

Whole Genome Sequencing

It’s time to learn more about whole genome sequencing

Genomic testing is increasingly being used as part of routine NHS patient care and treatment, and tests such as whole genome sequencing will be more widely available through the new national Genomic Medicine Service (GMS). But what is whole genome sequencing? How does it work and how can it benefit people with cancer, rare or infectious disease, and a range of other conditions?

This free, flexible online course, ‘Whole Genome Sequencing: Decoding the Language of Life and Health’, runs again in February 2020 over a three-week period. The content reflects the most current uses of whole genome sequencing in healthcare and includes information about how it will be used in the GMS; including interviews with leading experts such as Professor Dame Sue Hill, England’s chief scientific officer, and those in the fields of oncology, rare and infectious disease.


Topics covered:
  • The composition, structure and function of a genome.
  • The process and the importance of DNA replication.
  • Genomic variation and its connections with health and disease.
  • The evolution of genome sequencing.
  • The advent and the possibilities of next generation sequencing.
  • The preparation and processing of DNA samples in whole genome sequencing.
  • The interpretation of genomic information for clinicians and patients.
  • The limitations and challenges faced by current sequencing technologies.
  • Additional, incidental and secondary findings from whole genome sequencing.
  • The ownership, storing and sharing of genomic data.
  • The impact of whole genome sequencing on healthcare in the future.


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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.