This project seeks to perform whole genome sequence (WGS) and whole transcriptome sequence (WTS) analysis on 350 patients with suspected inherited bone marrow failure syndromes and related disorder (IBMFS-RD) in order to increase the genomic diagnostic rate in IBMFS.
age ≥ 3 months
able to give informed consent (or parent/guardian able to give informed consent)
a clinicopathological diagnosis (or differential diagnosis) of inherited bone marrow failure syndrome or related disorder (IBMFS-RD) as per the study team
A clinicopathological diagnosis of an acquired bone marrow failure syndrome (including acquired aplastic anaemia and hypoplastic myelodysplastic syndrome) as per the study team
Existing definitive genomic diagnosis for patient's haematological phenotype
Patients with suspected IBMFS-RD
Other
Prospective
whole genome and transcriptome sequencing
Diagnostic testTo perform whole genome/transcriptome analysis of patients in a cohort of up to 350 Australian patients with IBMFS-RD
Definitive IBMFS-RD diagnosis
IBMFS-RD diagnosis - An initial analysis of a panel of \~100 genes of established relevance to IBMFS-RD phenotype will be performed on all patients. If no molecular diagnosis is made from the panel of genes, further analysis on the genomic data will be performed using the best practice analytical tools and techniques. All results will be communicated to patients.
Develop a whole transcriptome gene expression classifier
To develop a whole transcriptome gene expression classifier to aid diagnosis of IBMFS-RD.
Cost-effectiveness of genomic testing in patients with suspected IBMFS-RD
The cost-effectiveness of genomic testing is assessed by the differences in costs and quality of life associated with genomic testings compared with standard of care. Costs being considered include direct medical costs incurred within the health system arising from utilisation of hospital services and drug dispensing. Quality of life is assessed by EORTC-QLQ-C30 version 3 and CHU9D questionnaires for adult and paediatric patients respectively.
Budget-impact of genomic testing in patients with suspected IBMFS-RD
Evaluation of budget-impact of genomic testing includes examining the financial and operational sustainability as well as scalability of offering genomic testing beyond the trial period.
Health implementation analyses regarding the acceptability of genomic testing
The acceptability of comprehensive and centralised genomic testing in IBMFS-RD to patients is measured by a patient acceptability questionnaire which assesses patients' view and understanding of genomic testing.
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Peter MacCallum Cancer Centre, Australia
Lead sponsor
National Health and Medical Research Council, Australia
Collaborator
University of Melbourne
Collaborator
