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| Name | Class |
|---|---|
| Children's Cancer Institute Australia | UNKNOWN |
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Assessment of the utility of family-based (trio) whole-genome sequencing for cancer predisposition testing in sequential newly diagnosed paediatric and adolescent cancer patients
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.
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| Label | Type | Description | Intervention Names |
|---|---|---|---|
| Children and adolescents with newly diagnosed malignancy |
|
| Name | Type | Description | Arm Group Labels | Other Names |
|---|---|---|---|---|
| Family-based whole genome sequencing | Diagnostic Test |
|
| Measure | Description | Time Frame |
|---|---|---|
| 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). | 2 years |
| Measure | Description | Time Frame |
|---|---|---|
| The proportion of individuals found to have a reportable germline mutation in a CPG | 2 years | |
| The proportion of patients who have de-novo vs. inherited mutation in CPG. | 2 years | |
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Psychosocial component:
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Paediatric patients who are being treated for a newly diagnosed cancer in New South Wales, Australia
| Name | Role | Phone | Extension | |
|---|---|---|---|---|
| Clinical Trials Manager | Contact | +61 2 9382 3122 | SCHN-PREDICT@health.nsw.gov.au |
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| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| John Hunter Children's Hospital | Recruiting | Newcastle | New South Wales | 2305 | Australia |
| PubMed Identifier | Type | Citation | Retractions |
|---|---|---|---|
| 37253493 | Derived | Fuentes Bolanos NA, Padhye B, Daley M, Hunter J, Hetherington K, Warby M, Courtney E, Kirk J, Josephi-Taylor S, Chen Y, Alvaro F, Barlow-Stewart K, Wong-Erasmus M, Barahona P, Ajuyah P, Altekoester AK, Tyrrell VJ, Lau LMS, Wakefield C, Sylvester D, Tucker K, Pinese M, Dalla Pozza L, O'Brien TA. Protocol for a comprehensive prospective cohort study of trio-based whole-genome sequencing for underlying cancer predisposition in paediatric and adolescent patients newly diagnosed with cancer: the PREDICT study. BMJ Open. 2023 May 30;13(5):e070082. doi: 10.1136/bmjopen-2022-070082. |
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|
| Turnaround time for issuing a report to the treating clinician. |
| 2 years |
| The proportion of participants with a complete recording of family history of cancer. | 2 years |
| Sensitivity and specificity of WGS versus single/multiple gene panel testing guided by clinical predictive factors. | 2 years |
| The proportion of participants with CPS who undergo cancer surveillance. | 2 years |
| Test the significance of common cancer risk polymorphisms within a family as a contributing factor in cancer incidence. | 2 years |
| 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. | 2 years |
| Assess the prevalence of subclonal somatic variation (e.g. clonal haematopoiesis of indeterminate potential) in children with non-haematological cancer. | 2 years |
| The psychological impact of the germline sequencing process, including the informed consent process, on patients and parents. | 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. | 5 years |
| Cost of clinical model including WGS for cancer predisposition testing in every child newly diagnosed with cancer. | 5 years |
| Sydney Children's Hospital | Recruiting | Sydney | New South Wales | 2031 | Australia |
|
| The Children's Hospital at Westmead | Recruiting | Sydney | New South Wales | 2145 | Australia |
|
| ID | Term |
|---|---|
| D009386 | Neoplastic Syndromes, Hereditary |
| D009369 | Neoplasms |
| D020022 | Genetic Predisposition to Disease |
| D004198 | Disease Susceptibility |
| ID | Term |
|---|---|
| D030342 | Genetic Diseases, Inborn |
| D009358 | Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| D020969 | Disease Attributes |
| D010335 | Pathologic Processes |
| D013568 | Pathological Conditions, Signs and Symptoms |
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