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

• Status: Recruiting
• Phase: —
• Study type: Observational
• Enrollment: 270 (estimated)
• Sponsor: Sydney Children's Hospitals Network · Academic / Other
• Sex: All
• Age: 21 Years
• Healthy volunteers: Not accepted

Summary

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

Detailed description

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.

Conditions

• Neoplastic Syndromes, Hereditary
• Cancer
• Genetic Predisposition to Disease

Interventions

Type	Name	Description
DIAGNOSTIC_TEST	Family-based whole genome sequencing	1. Germline whole-genome family-based sequencing and variant identification. 2. Multidisciplinary Meeting case discussion. 3. Recommendation of referral to a Cancer Genetics Clinic for further investigation, follow up and/or genetic counselling. 4. Psychosocial study to analyse the impact of germline sequencing on families.

Timeline

• Start date: 2021-03-08
• Primary completion: 2023-03-08
• Completion: 2028-06-15
• First posted: 2021-05-27
• Last updated: 2022-11-04

Locations

3 sites across 1 country: Australia