Genomic Diagnosis and Characterization of Inherited Bone Marrow Failure and Related Disorders Using Whole Genome and Transcriptome Sequencing

What this Trial Is About

Researchers are studying inherited bone marrow failure syndromes and related disorders IBMFS-RD, which are rare diseases causing serious health problems and early death. This research aims to improve diagnosis by using whole genome sequencing WGS and whole transcriptome sequencing WTS to better understand these conditions, which are often underdiagnosed due to limited genomic testing. The study will help clarify diagnosis, guide treatment choices, and inform genetic counseling for patients and their families. The study involves performing whole genome and transcriptome sequencing on up to 350 patients suspected of having IBMFS-RD. This observational study will analyze genetic data to increase the diagnostic rate and explore the health and economic impacts of genomic testing. The study will also investigate new ways to classify gene expression and gather data for a registry over a four-year period. Participants will provide samples for genomic analysis and share clinical information during the study. Researchers will review the diagnosis within 3 to 12 months after baseline and assess longer-term outcomes such as cost-effectiveness and health implementation over four years. The study will include genetic counseling and follow-up to monitor diagnostic results and help guide patient care. Participation duration varies as the study collects data and monitors outcomes over several years.

Diagnosis and Phenotype Characterisation Using Genomics in Patients With Inherited Bone Marrow Failure (IBMDx Study)