Assessment of the utility of family-based (trio) whole-genome sequencing for cancer predisposition testing in sequential newly diagnosed paediatric and adolescent cancer patients
New diagnosis of malignancy
Age ≤ 21 years
Written informed consent
Participants (≥ 12 years)
None
Paediatric patients who are being treated for a newly diagnosed cancer in New South Wales, Australia
Cohort
Prospective
Family-based whole genome sequencing
Diagnostic test1. 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.
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).
The proportion of individuals found to have a reportable germline mutation in a CPG
The proportion of patients who have de-novo vs. inherited mutation in CPG.
Turnaround time for issuing a report to the treating clinician.
The proportion of participants with a complete recording of family history of cancer.
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Sydney Children's Hospitals Network
Lead sponsor
Children's Cancer Institute Australia
Collaborator
