Retrospective WGS Study

February 5, 2025 updated by: The Wellcome Sanger Institute

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

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

Study Overview

Status

Enrolling by invitation

Conditions

Intervention / Treatment

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.

Study Type

Observational

Enrollment (Estimated)

2000

Contacts and Locations

This section provides the contact details for those conducting the study, and information on where this study is being conducted.

Study Locations

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Eligibility Criteria

Ages Eligible for Study

  • Child
  • Adult

Accepts Healthy Volunteers

No

Sampling Method

Non-Probability Sample

Study Population

All children and young people (up to the age of 21 years) diagnosed with a neoplastic disorder

Description

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.

Study Plan

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Design Details

Cohorts and Interventions

Group / Cohort
Intervention / Treatment
All children/young people (up to 21years) diagnosed with neoplastic disorder who have had NHSE WGS
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.
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).

What is the study measuring?

Primary Outcome Measures

Outcome Measure
Measure Description
Time Frame
The proportion of children clinically benefiting from whole genome sequencing
Time Frame: 5.5 years
The proportion of children clinically benefiting from whole genome sequencing in terms of improving diagnoses, treatment, and prognostication, amongst other aspects
5.5 years

Secondary Outcome Measures

Outcome Measure
Measure Description
Time Frame
Relation between mutation data and disease phenotypes
Time Frame: 5.5 years
To describe possible associations between genetic features and clinical phenotypes. What these associations look like will depend on the study results.
5.5 years

Other Outcome Measures

Outcome Measure
Measure Description
Time Frame
The cost of whole genome sequencing
Time Frame: 5.5 years
The cost of whole genome sequencing versus standard of care assays as performed for each patient
5.5 years

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Sponsor

The Wellcome Sanger Institute

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Major Dates

Study Start (Actual)

September 22, 2022

Primary Completion (Estimated)

March 31, 2027

Study Completion (Estimated)

March 31, 2027

Study Registration Dates

First Submitted

February 5, 2025

First Submitted That Met QC Criteria

February 5, 2025

First Posted (Actual)

March 25, 2025

Study Record Updates

Last Update Posted (Actual)

March 25, 2025

Last Update Submitted That Met QC Criteria

February 5, 2025

Last Verified

February 1, 2025

More Information

Terms related to this study

Additional Relevant MeSH Terms

Other Study ID Numbers

  • 319310

Plan for Individual participant data (IPD)

Plan to Share Individual Participant Data (IPD)?

UNDECIDED

Drug and device information, study documents

Studies a U.S. FDA-regulated drug product

No

Studies a U.S. FDA-regulated device product

No

product manufactured in and exported from the U.S.

No

This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.

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