Retrospective WGS Study
For patients and families
In plain language
An automatic summary of structured registry data. It is an orientation aid, not a substitute for the official protocol or a physician assessment.
- What is being studied
- The protocol lists: No intervention.
- Who it may be relevant to
- Registry conditions: Cancer, Pediatric Cancer, Neoplasm. Basic parameters: 0 years — 21 years · All.
- What needs checking
- Age, condition and sex are only basic indicators. Prior treatment, laboratory values and other mandatory requirements appear in the eligibility criteria below.
- Where it takes place
- United Kingdom
- Next step
- Save the trial, show it to the treating physician, and confirm current recruitment with the study center. Costs, documents and travel →
Unsure about the terms? Read our patient guide →
Official title
Assessing the Clinical Benefits of Whole Genome Sequencing for Children With Neoplasms
Overview
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.
Interventions
- 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).
Primary outcome measures
- The proportion of children clinically benefiting from whole genome sequencing [Time frame: 5.5 years]
Secondary outcome measures (1)
- Relation between mutation data and disease phenotypes [Time frame: 5.5 years]
Eligibility criteria
Inclusion criteria
- All children and young people (up to the age of 21 years) diagnosed with a neoplastic disorder who have been offered NHSE whole genome sequencing.
Exclusion criteria
- Anyone not offered NHSE whole genome sequencing
- Individuals beyond the age of 21
- Individuals without a neoplastic disorder.
Criteria are shown verbatim from the registry (in English). Final eligibility is always assessed by the study center.
Healthy volunteers: No
Study design
- Observational model
- Case-only
Study locations
United Kingdom · 1 center
- Wellcome Sanger Institute — Cambridge
Identifiers
NCT: NCT06820294 · 319310