Change to WGS report formats for Rare Disease duo/trio referrals

As of May 2022, please note that for Rare Disease Whole Genome Sequencing (WGS) the NHS North Thames Rare Disease Laboratory at Great Ormond Street Hospital will no longer routinely issue separate reports for the parents in trio/duo referrals where there is no primary finding in the proband. A report will be issued for the proband as usual.

The laboratory will generate separate reports for parents where there is a finding in the proband that presents a significant recurrence risk to offspring or other family members. The process for requesting WGS and submitting samples remains the same, and more information can be found on our Ordering Whole Genome Sequencing page.

If you have any questions about this change, please contact our designated WGS address:

Online Course

Whole Genome Sequencing: Patient Choice e-learning

Two e-learning courses on Patient Choice have been developed for NHS healthcare professionals who are ordering whole genome sequencing for patients with a suspected rare, inherited condition or cancer.

Developed by NHS East Genomic Laboratory Hub education and training lead Dr Gemma Chandratillake, the courses are now available nationally on Health Education England’s e-Learning for Healthcare (e-LfH) platform and offered in two pathways: one covering testing for a rare, inherited disease, and another covering testing for cancer.

Learners will explore the Patient Choice framework through textual, video and interactive content. On completion of the course, a short assessment will provide an opportunity to demonstrate what they have learned. Learners will then receive a record of feedback and be able to download a certificate of participation.