3D Genomics Solves Cancer Case Where Sequencing Came Up Short: Anthony Schmitt, Arima Genomics

Biology is complex, and the life science tool kit continues to expand to meet the challenge of that complexity taking us into the world of multi omics and beyond. Today we talk about 3D genomics and what this additional three-dimensional structural information is telling not just researchers, but clinicians, particularly in oncology.

Anthony Schmitt is the Senior VP of Science at Arima Genomics. On Arima’s website, they put it this way, with 3D, “you capture the organizational structure of chromatin in three dimensions, where genomic sequences that are distal to each other in linear distance can be closer to each other in the 3D space.”

Anthony shares a powerful story of a case where a patient presented with a stage 2 glioneuronal tumor at a leading research hospital.

"The tumor was resected and profiled with state-of-the-art clinical DNA and RNA sequencing panels. They couldn't find any targetable mutation that would be susceptible to therapy. So the patient was relegated to standard chemotherapy and monitoring, and six months later she relapsed. And again resection, DNA, and RNA sequencing panels. And again no driver mutation that could be targeted. I was working with the pathologist there who sent us the FFPE block. We identified a fusion event involving this gene called CD274 which turns out to be the same gene as PDL1. The patient was given Keytruda off-label back in September of 2021 and as of September of 2022 still has no disease."

These are the stories that drive new technologies forward. Anthony says Arima working to build the data to larger studies has recently forged a partnership with Protean BioDiagnostics, a CLIA and CAP accredited lab which will make their test available to clinicians to inform patient management in the next year.