Study Makes the Case for NGS Testing as SOC in Certain Patients With Advanced Cancer

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The results showed that in half of patients with cancers of unknown origin, next-generation sequencing located the primary site of origin and, in those who were matched to a therapy, half achieved a clinical benefit.

New study results support the use of next-generation sequencing (NGS) as standard-of-care (SoC) in patients with advanced solid tumors, particularly for certain groups.

Appearing in JAMA Oncology,1 results showed that in half of patients with cancers of unknown origin, NGS located the primary site of origin and in those who were matched to a therapy, half achieved a clinical benefit.

“Based on the data presented by Cobain et al and others, it is evident that such precision medicine strategies are especially fruitful in cancer types without clear standard-of-care options, such as carcinoma of unknown primary and other rare tumors,” said researchers in an accompanying editorial.2 “Such efforts will allow us to deliver personalized therapies with potential therapeutic benefit to patients and to further refine the development of precision medicine efforts in oncology.”


In total, there were 1000 patients included in the study, which analyzed approximately 7 years’ worth of data.

The findings also have important implications for inheritable cancer risk, as results showed that potentially inheritable cancer risk was detected in 16% of patients. The researchers of the study said this suggests directed germline testing for inherited cancer predisposition in all patients with advanced cancer is warranted.

“Any family members who have also inherited those same mutations may be at increased risk for cancer,” explained study author Erin Cobain, MD, an oncologist at Michigan Medicine in a press release. “So, a lot of this testing prompted downstream genetic testing and counseling across families. That’s how sequencing can have even more far-reaching impact than just looking for therapies to directly help a current patient.”

Overall, potentially actionable genomic alterations were identified in approximately 80% of patients. There were 132 patients who underwent sequencing-directed therapy, 20% of whom had exceptional responses and around 40% of whom exhibited any clinical benefit.

However, study authors acknowledged challenges associated with determining the clinical utility of NGS testing in the cancer space, including:

  • An evolving definition of clinically actionable alterations as new treatments are developed and approved
  • Uncertainty around which alterations are most important to target in patients that harbor several
  • The possibility of patients with advanced tumors and multiple prior therapies not qualifying for trials
  • Potentially limited availability of biomarker-selected trials


1. Cobain EF, Wu Y, Vats P, et al. Assessment of clinical benefit of integrative genomic profiling in advanced solid tumors. JAMA Oncol. Published online February 25, 2021. doi:10.1001/jamaoncol.2020.7987

2. Yap TA, Johnson A, and Meric-Bernstam F. Precision medicine in oncology—toward the integrated targeting of somatic and germline genomic aberrations. JAMA Oncol. Published online February 25, 2021. doi:10.1001/jamaoncol.2020.7988