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Enrolling by Invitation

NCT Number: NCT06820294

Retrospective WGS Study

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

Enrolling by Invitation

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Key information

Conditions

Cancer Neoplasm Neoplasms Pediatric Cancer

Age range

0 year–21 year

Sex eligibility

All sexes

Study type

Observational

Primary location

Wellcome Sanger Institute

Cambridge, United Kingdom

About this study

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.

Who can participate

Healthy volunteers accepted: No

Only the study team can determine whether someone qualifies for participation.

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.

Treatment and study plan

No intervention

Other

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 outcomes

  1. 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

Secondary outcomes

  1. 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.

Other outcomes

  1. 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

Sponsors and collaborators

Lead sponsor

The Wellcome Sanger Institute

Other

Registry information

Official study title

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

Important dates

Study start
2022
Primary completion
2027
Study completion
2027
First posted
Feb 11, 2025
Registry last updated
Feb 11, 2025

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

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