Cancer, Neoplasm, Pediatric Cancer
Conditions
Brief 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.
Interventions
OTHERNo 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).
Sponsors
The Wellcome Sanger Institute
Study design
Observational model
CASE_ONLY
Time perspective
RETROSPECTIVE
Eligibility
Sex/Gender
ALL
Age
0 Years to 21 Years
Healthy volunteers
No
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.
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| The proportion of children clinically benefiting from whole genome sequencing | 5.5 years | The proportion of children clinically benefiting from whole genome sequencing in terms of improving diagnoses, treatment, and prognostication, amongst other aspects |
Secondary
| Measure | Time frame | Description |
|---|---|---|
| Relation between mutation data and disease phenotypes | 5.5 years | To describe possible associations between genetic features and clinical phenotypes. What these associations look like will depend on the study results. |
Other
| Measure | Time frame | Description |
|---|---|---|
| The cost of whole genome sequencing | 5.5 years | The cost of whole genome sequencing versus standard of care assays as performed for each patient |
Countries
United Kingdom
Outcome results
None listed