Retrospective WGS study (IRAS 319310)

Children with cancer are increasingly being offered whole genome sequencing through the NHS, but it is not yet clear whether this testing is improving care in real time. We will review the medical records of children with tumours who have received NHS whole genome sequencing to see whether it has provided meaningful benefits. By examining what happened in routine clinical practice, we will find out how useful this testing has been for patients. Our findings could help shape future NHS policy, guide investment in genomic medicine, and improve care for children with cancer.

The NHS England (NHSE) whole genome sequencing programme was introduced at the end of 2020, but it remains uncertain whether whole genome sequencing provides tangible real-time benefits for children with cancer. There is therefore a need to evaluate the clinical impact of this programme in routine practice.

We will conduct a retrospective case series reviewing the clinical records of children with tumours who have undergone NHSE whole genome sequencing. The review will assess whether patients have benefited from this additional diagnostic assay. In addition to contributing to the scientific literature, the findings will provide evidence on the value of the live NHSE whole genome sequencing programme and may inform future government policy regarding its continuation.

Rationale

There is an urgent need, to assess whether children with tumours who are receiving NHS whole genome sequencing are actually benefiting from this additional assay. Apart from the contribution 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

Aims

The study aims to:

• Have children who have undergone whole genome sequencing in the NHS clinically benefitted in terms of improved diagnosis, treatment and predicting clinical outcome?

Primary Outcome

To assess the clinical impact of whole genome sequencing of childhood tumours on the management of children with
a neoplasm

Key Secondary outcome(s)

To assess the cost-effectiveness of whole genome sequencing versus standard-of-care

To determine possible associations between genetic features and clinical phenotypes.

Study Type

Observational

Case series

Participant and Sample Information

Populations involved:

Children with tumours receiving NHS whole genome sequencing for cancer.

Countries of recruitment:

UK

Approximate participant or sample numbers (if applicable):

1000

Key inclusion criteria:

• All children and young people (up to the age of 21 years)
• Diagnosed with a neoplastic disorder
• Have been offered NHSE whole genome sequencing

Key exclusion criteria:

• Anyone not offered NHSE whole genome sequencing
• Beyond the age of 21
• Without a neoplastic disorder

Recruitment status:

Recruiting by invitation only.

Governance and Ethical Approval

Governance and oversight:

Study Sponsor: Wellcome Sanger Institute

All work conducted at the Wellcome Sanger Institute is reviewed and overseen by institutional Research Governance processes, ensuring compliance with ethical, legal, and regulatory requirements.

Ethical approval:

This study has been reviewed by the Wales REC 5 NHS Research Ethics Committee. The study received REC approval on 22 September 2022.

IRAS 319310

REC reference: 22/WA/0281

Data and Sample Use

Data sharing:

Anonymised DNA sequence data are stored in the European Genome-Phenome Archive (EGA) and made available to bonafide researchers via managed access, subject to data access agreements. Anonymised samples and cultured cells may also be shared with other legitimate research organisations under appropriate legal agreements.

IPD sharing statement

Deidentified individual participant-level data (IPD) will not be shared as part of this study.

Completion date 

Ongoing

Further Information

For enquiries about the scientific aims of this study or potential collaboration, please contact the relevant scientific programme at sb31@sanger.ac.uk.

For enquiries relating to research governance, ethics, or regulatory oversight, please contact the Research Governance team at researchgovernance@sanger.ac.uk.