Monday Lunch Live
The Evolution of a Genetic Haematology Service
19 August 2024
Enhancing diagnostic precision and research participation for bone marrow failure and hereditary haematological malignancies
Dr Lucy Fox discusses the Genetic Haematology Clinic established at Peter MacCallum Cancer Centre and Royal Melbourne Hospital.
The clinic, also called the Genomic Haematology Clinic, was set up for the comprehensive care and accurate diagnosis of bone marrow failure (BMF) syndromes and hereditary haematological malignancies (HHM).
About bone marrow failure
Bone marrow failure develops when the bone marrow is unable to produce enough healthy blood cells for an individual's needs. The bone marrow is the soft, spongy centre of the bones and it’s the body's factory where all blood cells are produced, including red blood cells, which carry oxygen throughout the body.
About haematologic malignancies
Haematologic malignancies are cancers that affect the blood, bone marrow, and lymph nodes. Types of hematologic malignancies include leukemia and myelodysplastic syndrome (MDS), among others. In some cases, an inherited gene mutation may cause a person to develop a haematologic (blood) cancer.
Dr Fox discusses key projects which have contributed to the evolution of the clinic including:
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The Melbourne Genomics Health Alliance Bone Marrow Failure Flagship, involving targeted sequencing and whole exome sequencing to improve diagnostic accuracy in 115 patients.
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The EMBRACE study, which is developing, implementing, and evaluating a 10-component model of care for 455 patients.
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IBMDx study focusing on diagnosis, discovery, and phenotype characterisation using multimodal genomics, with findings discussed in national monthly variant review meetings attended by 60-100 health professionals.
Chair
Prof. David Ritchie
Director CRE in Bone Marrow Biology & Chair Scientific Advisory Committee
Professor David Ritchie is a Haematologist and Bone Marrow transplant specialist at the Royal Melbourne Hospital. He undertook his medical training and PhD in Immunology at the University of Otago before moving to Melbourne 10 years ago. He is head of the Bone Marrow Transplant Service of Royal Melbourne Hospital. He runs two research laboratories and is involved in all aspects of research into blood and bone marrow conditions. He is the immediate past president of the Haematology Society of Australia and New Zealand and is heavily involved in training young haematologists and medical researchers.
Dr Lucy Fox
Dr Lucy Fox is a clinical and laboratory haematologist in the Molecular Haematology Laboratory at the Peter MacCallum Cancer Centre (PMCC) and runs the Genomic Haematology Clinic at the Royal Melbourne Hospital (RMH) and PMCC.
She is the clinical research fellow for the Australian Aplastic Anaemia and other Bone Marrow Failure Syndromes Registry (AAR). In this role she liaises with clinicians and other clinical team members at 40 institutions nationally and is focused on maintaining a comprehensive database of all eligible and consenting patients with both acquired and inherited bone marrow failure.
Dr Fox is a Chief Investigator on Maddie Riewoldt’s Vision EMBRACE trial and the MRFF-sponsored IBMDx study, focusing on multidisciplinary care and multimodal genomics in bone marrow failure syndromes (BMF) and inherited haematological malignancies.
Dr Fox received the Maddie Riewoldt’s Vision higher degree scholarship and Bridging Fellowship (2021-23). She is a member of the Scientific Committee of Maddie Riewoldt’s Vision Bone Marrow Biology Centre for Research Excellence and is dedicated to the education of colleagues and junior staff, participating in trainee educational programs and institutional journal clubs on bone marrow failure genomics.
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