Testing for cancer risk genes in children 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

Observational Sydney Children's Hospitals Network · NCT04903782

This study is testing whether a family-based genetic test can help find cancer risk genes in children and teens who have just been diagnosed with cancer.

Quick facts

Study typeObservational
Enrollment270 (estimated)
AgesN/A to 21 Years
SexAll
SponsorSydney Children's Hospitals Network Academic / other
Locations3 sites (Newcastle, New South Wales and 2 other locations)
Trial IDNCT04903782 on ClinicalTrials.gov

What this trial studies

This study assesses the effectiveness of family-based whole-genome sequencing (WGS) to identify cancer predisposition syndromes in children and adolescents newly diagnosed with cancer. By analyzing the genetic information of the patient and their family, the study aims to uncover germline mutations that may increase cancer risk. The research will evaluate the clinical benefits of this approach compared to traditional predictive methods, focusing on its impact on patient care and genetic counseling. The study also aims to explore the psychosocial effects of genetic testing on patients and their families.

Who should consider this trial

Good fit: Ideal candidates for this study are children and adolescents aged 21 years or younger who have been newly diagnosed with cancer.

Not a fit: Patients who do not have a new diagnosis of malignancy or are older than 21 years may not benefit from this study.

Why it matters

Potential benefit: If successful, this study could lead to improved identification of cancer predisposition in children, enhancing early intervention and personalized care.

How similar studies have performed: While the approach of using whole-genome sequencing for cancer predisposition testing is gaining traction, the specific application in pediatric populations is still relatively novel and has not been extensively tested.

Eligibility criteria

Show full inclusion / exclusion criteria
* 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

Where this trial is running

Newcastle, New South Wales and 2 other locations

Study contacts

How to participate

  1. Review the eligibility criteria above with your treating physician.
  2. Visit the official trial page on ClinicalTrials.gov for the most current contact information and recruitment status.
  3. Contact the listed study coordinator or principal investigator to request pre-screening. Pre-screening is free and never obligates you to enroll.
Conditions Neoplastic Syndromes, HereditaryCancerGenetic Predisposition to DiseaseGerm-line MutationDisease SusceptibilityChildPediatricsGenomics
Last reviewed 2026-06-13 by the Find a Trial editorial team. Information on this page is for educational purposes and is not medical advice. Always consult qualified healthcare professionals about clinical trial participation.