NCT06820294

Retrospective WGS Study

Assessing the Clinical Benefits of Whole Genome Sequencing for Children With Neoplasms

• Status: Enrolling By Invitation
• Phase: —
• Study type: Observational
• Enrollment: 2,000 (estimated)
• Sponsor: The Wellcome Sanger Institute · Academic / Other
• Sex: All
• Age: 0 Years – 21 Years
• Healthy volunteers: Not accepted

Summary

This retrospective case series reviews clinical notes to assess whether NHS whole genome sequencing provides tangible benefits for paediatric tumours.

Detailed description

The NHSE-commissioned whole genome sequencing programme went live at the end of 2020. It remains as yet unproven, whether this whole genome sequencing programme for children with cancer can deliver tangible benefits in real-time. There is an urgent need, therefore, to assess whether children with tumours who are receiving NHS whole genome sequencing are actually benefiting from this additional assay. This is a retrospective case series. The principal methodology is that of reviewing clinical notes to assess whether children with tumours have benefited from NHSE whole genome sequencing. Apart from the contribution of our work to the scientific literature, this research will inform government on the potential benefits, or lack thereof, of the live NHSE whole genome programme and has the potential to influence policy on whether this programme should be continued.

Conditions

• Cancer
• Pediatric Cancer
• Neoplasm

Interventions

Type	Name	Description
OTHER	No intervention	As per widely adopted clinical research practice for case reviews of de-identified, anonymised data, no explicit consent of participants (or their legal guardians) would be required for this study other than the consent they provided at biopsy (from which the whole genome sequencing data is derived) for researchers to access their notes (as documented on hospital consent form).

Timeline

• Start date: 2022-09-22
• Primary completion: 2027-03-31
• Completion: 2027-03-31
• First posted: 2025-02-11
• Last updated: 2025-02-11

Locations

1 site across 1 country: United Kingdom