Francesco Maura, MD, an assistant professor and principal investigator of the myeloma genomic lab at Sylvester Comprehensive Cancer Center, discusses the challenges of whole-genome sequencing in multiple myeloma.

The widespread adoption of whole-genome sequencing is unlikely in the United States, says Maura. The technology is expensive and difficult to standardize, Maura explains. 

The Pan-Cancer Analysis of Whole Genomes Consortium of the International Cancer Genome Consortium and The Cancer Genome Atlas is working toward reaching a consensus regarding the standardization of whole-genome sequencing, Maura explains. However, these complicated guidelines will require tailoring and additional research over many years, so significant and long-term efforts are needed, Maura adds. 

Another challenge of whole-genome sequencing is storage, Maura says. Whole-genome sequencing data for 3 to 4 patients requires approximately 1 terabyte of storage, so utilizing this platform for thousands of patients would require adopting a new approach to cancer genomics and data storage, concludes Maura.

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Francesco Maura, MD, discusses the challenges of whole-genome sequencing in multiple myeloma.  



Dr. Maura on the Challenges of Whole-Genome Sequencing in Multiple Myeloma 

Francesco Maura, MD, an assistant professor and principal investigator of the myeloma genomic lab at Sylvester Comprehensive Cancer Center, discusses the significance of studying genomic defining events in patients with multiple myeloma.

A study that utilized whole-genome sequencing to identify progressive and stable myeloma precursor conditions as 2 distinct entities, set out to answer 2 important questions within the myeloma community, according to Maura. One is if a patient progresses, experts in the field wish to know their predictive risk. Researchers have published important studies demonstrating that specific genomic drivers are associated with patients who experience progressive disease, Maura says.

The majority of the population in the study included patients with smoldering myeloma due to the high number of cells that can be collected, he says. Moreover, exome and targeted platforms were utilized for this research. These technologic advances are focused on a small fraction of genomes, Maura concludes.

Francesco Maura, MD, discusses the significance of studying genomic defining events in patients with multiple myeloma.

Francesco Maura, MD

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Dr. Maura on the Challenges of Whole-Genome Sequencing in Multiple Myeloma

Dr. Maura on the Significance of Studying Myeloma Genomic Defining Events