US-based healthcare company NantHealth has secured the FDA marketing authorisation for its whole-exome tumour-normal in vitro diagnostic (IVD) Omics Core.

NantHealth said that Omics Core is the first whole-exome tumor-normal IVD, designed to measure the overall tumour mutational burden (TMB) in cancer tissue.

In addition, the assay marks the first FDA authorised sequencing platform to report both overall tumour mutation burden in tumour specimens from 19,396 protein-coding genes and somatic alterations in 468 cancer-relevant genes.

NantHealth chairman and CEO Patrick Soon-Shiong said: “Tumor mutation burden (TMB) is now recognized as a key biomarker across multiple tumour types. Studies have shown that immunotherapy treated patients with high TMB had better outcomes compared to those with low TMB.

“Since the potential for TMB as a precision medicine tool is so high, it is imperative that the most accurate and comprehensive method of analysis be applied to enable physicians to determine which tumours could benefit from checkpoint inhibitors and immunotherapy.”

Omics Core is a single-site assay designed to measure TMB

The Omics Core assay is a qualitative IVD test that detects tumour gene alterations in a broad multi-gene panel, using next-generation sequencing of formalin-fixed paraffin-embedded tumour tissue matched with normal specimens from patients with solid malignant neoplasms.

The company said that Omics Core has been designed to provide information on somatic mutations and to measure TMB through surveying the total number of somatic non-synonymous exonic variants within the 19,396 genes.

In addition, the assay estimates mutation rate by counting all somatic, synonymous and non-synonymous variants detected in gene coding regions and dividing by the approximate size of the whole exome.

NantHealth chief medical officer Sandeep Bobby Reddy said: “Omics Core is the first whole-exome test for TMB authorized by the FDA, and as such, marks a watershed moment in oncology. Clinicians can now directly measure the mutations in a patient’s tumor specimen accurately via tumour-normal sequencing and have confidence that the results they receive are fully validated to help support better therapeutic decisions.

“Also, the breadth of a whole exome means that many more neoepitopes and novel targets may be identified to support vaccine development, novel drug development, and therapies for previously undruggable targets.”