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Next-Generation Sequencing More Cost-Effective and Faster Than Single-Gene Testing

August 2018 Vol 11, Special Issue - Value-Based Care

Chicago, IL—Genomic testing is now standard of care for patients with non–small-cell lung cancer (NSCLC). The 4 identified genomic mutations that are targetable with FDA-approved therapies include EGFR, ALK, ROS1, and BRAF, and other NSCLC-associated genetic mutations are targetable with therapies currently being investigated in clinical trials. More genetic mutations are linked to NSCLC, but there is currently no accepted standard for genomic testing in NSCLC, or the optimal timing of such tests.

A new study presented at ASCO 2018 showed that the use of next-generation sequencing (NGS) of metastatic NSCLC tumors to test for all known cancer-related genetic mutations was more cost-effective and provided faster results than testing for a single or limited number of genetic mutations at a time. The study was based on an economic model that accounted for Medicare and commercial health plans with 1 million hypothetical members.

The model showed that the use of NGS versus 3 other genomic testing options saved between $1.4 million and $2.1 million for Medicare health plans and between $127,402 and $250,842 for commercial health plans.

"The field of lung cancer treatment is moving at a rapid pace, and we need to fully characterize genomic changes to determine the best treatment for patients shortly after they are diagnosed," said lead investigator Nathan A. Pennell, MD, PhD, Director, Lung Cancer Medical Oncology Program, Taussig Cancer Institute, Cleveland Clinic, OH.

"Today, many treatment decisions are guided by the presence or absence of certain genetic changes in a patient's tumor, and I expect that several more genes will be identified in the near future. Therefore, it becomes even more imperative to find a cost-effective gene test that can quickly identify a large number of gene mutations that can be targeted by treatments," Dr Pennell added.

"Testing for a single gene is time-consuming and uses up available tumor tissue. NGS can test for all known genetic abnormalities associated with NSCLC and potentially many others as yet unidentified," Dr Pennell told listeners.

The model was designed to determine which genomic testing approach is most cost-effective and time-efficient among 4 different strategies:

  • NGS
  • Sequential testing for 1 gene at a time
  • Exclusionary testing for KRAS followed by sequential testing for changes in other genes if the KRAS mutation was present and no other tests if KRAS was not present
  • A "hotspot" panel test for EGFR, ALK, ROS1, and BRAF, followed by either single-gene testing or NGS testing.

Genomic Mutations in Lung Cancer

The known gene alterations in NSCLC that are targetable with approved therapies include EGFR, ALK, ROS1, BRAF, and MET. Investigational therapies are targeted to genetic changes identified in NSCLC, including HER2, RET, and NTRK1.

Newer tests are now looking at PD-L1 expression to predict whether the tumor will respond to available immunotherapies.

NGS and the hotspot panel test had faster turnaround times, which enable patients to start appropriate therapy 2.8 and 2.7 weeks, respectively, earlier than the other tests. In addition, NGS identified a higher percentage of patients with targetable genomic alterations compared with the other 3 strategies. Furthermore, "Other strategies exhausted available tumor tissue," Dr Pennell said.

"In summary, NGS decreased the cost of testing, identified the highest percentage of targetable genetic alterations, and had the fastest turnaround," he said.

"This is welcome news!" said ASCO President Bruce E. Johnson, MD, FASCO, Chief Clinical Research Officer, Dana-Farber Cancer Institute, Boston. "NGS is being integrated into clinical practice. It provides us with better information more quickly compared with other strategies."

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Last modified: August 30, 2021