Validation of clinical‐grade whole genome sequencing reproduces cytogenetic analysis and identifies mutational landscape in newly‐diagnosed multiple myeloma patients: A pilot study from the 100,000 Genomes Project
Oliver C. Lomas,
Sarah Gooding,
Maite Cabes,
Helene Dreau,
Edward Wilson,
Paolo Polzella,
Genomics England Research Consortium,
Karthik Ramasamy,
Angela D. Hamblin
Affiliations
Oliver C. Lomas
Department of ClinicalHaematology John Radcliffe and Churchill Hospitals Oxford University Hospitals NHS Trust Oxford UK
Sarah Gooding
Department of ClinicalHaematology John Radcliffe and Churchill Hospitals Oxford University Hospitals NHS Trust Oxford UK
Maite Cabes
Department of ClinicalHaematology John Radcliffe and Churchill Hospitals Oxford University Hospitals NHS Trust Oxford UK
Helene Dreau
Department of ClinicalHaematology John Radcliffe and Churchill Hospitals Oxford University Hospitals NHS Trust Oxford UK
Edward Wilson
Department of ClinicalHaematology John Radcliffe and Churchill Hospitals Oxford University Hospitals NHS Trust Oxford UK
Paolo Polzella
Department of ClinicalHaematology John Radcliffe and Churchill Hospitals Oxford University Hospitals NHS Trust Oxford UK
Genomics England Research Consortium
Genomics England London UK
Karthik Ramasamy
Department of ClinicalHaematology John Radcliffe and Churchill Hospitals Oxford University Hospitals NHS Trust Oxford UK
Angela D. Hamblin
Department of ClinicalHaematology John Radcliffe and Churchill Hospitals Oxford University Hospitals NHS Trust Oxford UK
Abstract Multiple myeloma is characterized by chromosomal abnormalities and genetic variation, which may inform prognosis and guide treatment. This pilot study sought to examine the feasibility of incorporating Whole Genome Sequencing (WGS) alongside the routine laboratory evaluation of 14 patients with newly diagnosed multiple myeloma who had enrolled in the 100,000 Genomes Project. In all 14 cases, WGS data could be obtained in a timely fashion within existing clinical frameworks in a tertiary hospital setting. The data not only replicated standard‐of‐care FISH analysis of chromosomal abnormalities but also provided further chromosomal and molecular genetic insights that may influence patient management.
