Exploring the Role of Genomic Testing in Urothelial Cancer


Bishoy M. Faltas, MD, discusses the current use of genomic testing to guide urothelial cancer treatment.

Bishoy M. Faltas, MD, assistant professor of Medicine and assistant attending for the Genitourinary Oncology Program in the Division of Hematology & Medical Oncology at Weil Cornell Medicine, discusses the current use of genomic testing to guide urothelial cancer (UC) treatment.

With each year, the role of genomic testing is playing an increasingly important role in UC. Several actionable mutations include FGFR3, PIK3CA, and CDKN2A.

There are several different options for genomic testing in bladder cancer patients. Commercial panels are available in the community setting, while in the academic setting, there is access to tools that provide a more comprehensive view of the genome.

Understanding the differences between the tests, the differences between a research grade and a clinical grade test or assay, and how to interpret the meaning of the test are most important for those practicing genomic testing in these settings, according to Faltas.


0:08 | We've been learning a lot over the past few years about the genomic underpinnings of bladder cancer. The role of genomic testing is expanding almost every year as we learn more about the role of genomic alterations in the pathogenesis, the natural history, and response to treatment in patients with bladder cancer. This year, we are learning a lot more about the role of the germline variants in urothelial cancer. Germline variants are these alterations that we're all born with, that are inherited.

0:54 | This year, we published a manuscript in Nature Communications that looked at the role of germline alterations or germline variants, in bladder cancer patients. We identified several common germline variants in these patients, which is consistent with other findings that are emerging from other groups. Now, we're trying to understand how these germline alterations interact with the cancer, somatic alterations to shape the course of bladder cancer.

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