Skip to main content
OpenTrials
Recruiting

NCT Number: NCT04903782

Cancer Predisposition Testing by Family-based Whole-genome Sequencing (WGS) in Every Child With Newly Diagnosed Cancer

Assessment of the utility of family-based (trio) whole-genome sequencing for cancer predisposition testing in sequential newly diagnosed paediatric and adolescent cancer patients

Recruiting

Interested in participating?

Request Info

Key information

Conditions

Neoplastic Syndromes, Hereditary Cancer Congenital, Hereditary, and Neonatal Diseases and Abnormalities Disease Attributes Disease Susceptibility Genetic Diseases, Inborn Genetic Predisposition to Disease Neoplasms Pathologic Processes Pathological Conditions, Signs and Symptoms

Age range

Up to 21 year

Sex eligibility

All sexes

Study type

Observational

Primary location

John Hunter Children's Hospital, Newcastle, New South Wales, Australia

Loading trial locations.

About this study

Cancer Predisposition Syndromes (CPS), caused by germline mutations in cancer predisposition genes (CPG) are heritable disorders associated with an increased risk of developing certain types of cancer.

Knowledge of CPG will advance the understanding of tumorigenesis, improve patient care, and facilitate genetic counselling of patients and families. But the prevalence of CPS in Australian children with cancer and the psychosocial impact of germline sequencing to identify CPG have not been studied.

The clinical benefit of family-based WGS in every new child with cancer compared with conventional predictive factors is currently unknown. By testing every child with newly diagnosed cancer the aim is to determine the utility of this approach and its impact on participants and families.

The principal objective of the proposed multicentre prospective study is establish the clinical benefit and utility of family-based WGS to identify underlying CPS in every newly diagnosed child with cancer.

Who can participate

Healthy volunteers accepted: No

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

  • New diagnosis of malignancy
  • Age ≤ 21 years
  • Written informed consent

Psychosocial component:

  • Participants (≥ 12 years)
  • Parent/caregiver(s) of participants
  • Healthcare professionals involved in the care of patients enrolled in the study

Treatment and study plan

Family-based whole genome sequencing

Diagnostic Test
  • Germline whole-genome family-based sequencing and variant identification.
  • Multidisciplinary Meeting case discussion.
  • Recommendation of referral to a Cancer Genetics Clinic for further investigation, follow up and/or genetic counselling.
  • Psychosocial study to analyse the impact of germline sequencing on families.

Primary outcomes

  1. The proportion of patients with CPS identify by WGS as compared to those correctly identified by clinical information (i.e. family history, tumour type, physical findings).

    Time frame: 2 years

Secondary outcomes

  1. The proportion of individuals found to have a reportable germline mutation in a CPG

    Time frame: 2 years

  2. The proportion of patients who have de-novo vs. inherited mutation in CPG.

    Time frame: 2 years

  3. Turnaround time for issuing a report to the treating clinician.

    Time frame: 2 years

  4. The proportion of participants with a complete recording of family history of cancer.

    Time frame: 2 years

  5. Sensitivity and specificity of WGS versus single/multiple gene panel testing guided by clinical predictive factors.

    Time frame: 2 years

  6. The proportion of participants with CPS who undergo cancer surveillance.

    Time frame: 2 years

  7. Test the significance of common cancer risk polymorphisms within a family as a contributing factor in cancer incidence.

    Time frame: 2 years

  8. Quantify the frequency of rare noncoding, complex, and oligogenic variation (in units of variants/person, and genes with variants/person), as detected by WGS, in a paediatric cancer population relative to cancer-free parents and population controls.

    Time frame: 2 years

  9. Assess the prevalence of subclonal somatic variation (e.g. clonal haematopoiesis of indeterminate potential) in children with non-haematological cancer.

    Time frame: 2 years

  10. The psychological impact of the germline sequencing process, including the informed consent process, on patients and parents.

    Time frame: 5 years

    This will be achieved through identifying the incidence of patients and parents enrolled in the study experiencing clinically significant levels of distress, defined as a >7 rating on any of the outcome measures in the Emotion Thermometers Tool©. The incidence of parents and patients experiencing other psychological outcomes such as reduced quality of life will also be identified using the validated scales EuroQoL EQ-5D-5L (parent proxy)/EQ-5D-Y (youth version), Decisional Regret Scale and the Trust In Physician Scale (adapted for a paediatric setting). Psychological outcomes will be re-assessed over the 5 year course of the study to assess impacts of germline sequencing over time.

  11. Cost of clinical model including WGS for cancer predisposition testing in every child newly diagnosed with cancer.

    Time frame: 5 years

Study contacts

Contact information is provided by the study sponsor or research team.

Clinical Trials Manager

CONTACT

[email protected]

+61 2 9382 3122

Sponsors and collaborators

Lead sponsor

Sydney Children's Hospitals Network

Other

Collaborators

  • Children's Cancer Institute Australia

Registry information

Official study title

Assessment of the Utility of Family-based (Trio) Whole-genome Sequencing for Cancer Predisposition Testing in Sequential Newly Diagnosed Paediatric and Adolescent Cancer Patients

Acronym: PREDICT

Important dates

Study start
2021
Primary completion
2023
Study completion
2028
First posted
May 27, 2021
Registry last updated
Nov 4, 2022

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.

Related clinical trials

Published trials that share one or more normalized conditions with this study.