The inherited bone marrow failure and related disorders (IBMDx) study addresses the challenges associated with diagnosing inherited bone marrow failure syndromes and related disorders (IBMFS-RD), a group of genetically diverse and rare diseases that can manifest throughout a lifetime. Given the complexity and rareness of these syndromes, accurate diagnosis based on clinical presentation alone is often challenging.
The primary objective of the IBMDx study is to improve the diagnostic process by leveraging whole genome and transcriptome sequencing (WGS/WTS). By analysing the genomic information of IBMFS-RD patients, this study aims to provide definitive diagnoses and enhance our understanding of these conditions. It also investigates the efficacy of WGS/WTS in the context of IBMFS-RD, evaluating its impact on health economics and assessing the challenges involved in implementing genomic testing in healthcare settings.
A/Professor Piers Blombery
Peter MacCallum Cancer Centre
Recruitment period: February 2022 – December 2024
Patients must meet all the following criteria for study entry:
- 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; or
- Existing definitive genomic diagnosis for patient’s haematological phenotype.
- A germline sample: hair follicles or skin fibroblasts; and
- A blood sample: approximately 10mL for adults; clinically appropriate volume for paediatric patients.