Health In Focus
  • Non-small cell lung cancers (NSCLC) account for nearly 80 percent of lung cancers.
  • Many treatment options are available including highly targeted therapies depending on the type of genetic mutation occurring in a particular patient.
  • Scientists have developed a blood test that can identify these mutations in about three days and help initiate precise treatment without wasting precious time.

Novel blood based test that identifies the genetic mutations occurring in NSCLC patients in approximately 3 days could result in faster initiation of highly individualized therapy with better outcomes feel the team of scientists at Biodesix Inc who invented this test.

Aim of the Research

The developers of this novel test aim to provide doctors and patients with a rapid yet accurate blood test to reveal specific mutations that occur in different patients so that
  • Precise and targeted treatment can be delivered to these patients soon after diagnosis.
  • Test can be performed in the community setting where there is otherwise no access to specialized diagnostic facilities.
  • Results are available rapidly and customized treatment to suit the patient can be initiated much faster.
  • The test can be used to monitor response to therapy and to identify recurrence.
  • Patient outcomes will be better.
"This study is critical because it is the first to demonstrate the uptake of blood-based testing for actionable mutations in the non-hospital (community) setting. Physicians and patients in a community setting may not have easy access to a large hospital or other diagnosis/treatment facility. This assay provides results within 72 hours from sample receipt," explained Gary A. Pestano, PhD, Vice President of Development and Operations of Biodesix, Inc., a co-inventor of the test.

Methods and Findings of the Study

The developers of the test analyzed more than 1600 blood samples from patients mostly drawn from the community setting.
Novel Blood Test Allows Quicker, Precise Therapy of Non-Small Cell Lung Cancer

The method used to identify the mutations is based on the partitioning of DNA into droplets in order to identify specific circulating tumor DNA mutations and RNA variants in whole blood.

The percentage of various mutations that were identified included the following:
  • EGFR sensitizing mutations - 10.5%
  • EGFR resistant mutations - 18.8%
  • KRAS mutations - 13.2%
  • ALK mutations - 2%
The tests were highly sensitive (>80%) and specific (100%) for detecting the various mutations. The results were mostly the same when matched with tissue based results obtained by histological techniques.

The results were available within 72 hours of drawing blood, while tissue based methods take a few weeks, thereby delaying treatment unnecessarily.

Mutations In NSCLC That Are Responsive to Personalized Treatment

The various mutations in non-small cell lung carcinoma that can be targeted during treatment include mutations of epidermal growth factor receptor (EGFR) mutations, EGFR T790M mutation and anaplastic lymphoma kinase (ALK) rearrangements.

These mutations are referred to as actionable mutations. An actionable mutation is critical to the growth and spread of the tumor. By targeting these mutations using specific inhibitors, patient outcome can be markedly improved both in terms of reducing severity of the disease as well as prolonging survival.

Drugs that are effective in persons with EGFR mutations include tyrosine kinase inhibitors (TKIs), such as Erlotinib or Gefitinib, while patients with the EGFR T790M mutation are relatively resistant to these drugs. On the other hand, patients with ALK rearrangements do not respond to EGFR-TKIs, but are responsive to other targeted therapies (such as Ceretinib).

"The described assay can detect actionable mutations in patients diagnosed with earlier stages of NSCLC, thereby improving clinical outcomes," remarked Dr. Pestano.

To conclude, not only does this test help in patient selection, it can also be used to monitor response to therapy, presence of residual disease, identify recurrence of the disease and development of therapy resistant cancer cells more rapidly than conventional tissue based methods.

The icing on the cake is that the facility for performing these tests can be established in the community setting thus saving precious time otherwise spent in traveling to specialist centers, and waiting for the time consuming tissue based results.

In the words of first author Hestia Mellert, PhD, Director of Molecular Development at Biodesix, Inc. "Physicians in remote locations may now have greater and more rapid access to this critical patient information. These data highlight the adoption of mutation testing by the lung cancer community and demonstrate the utility of a centralized laboratory for the evaluation of actionable mutations from blood."

References :
  1. Targeted Therapy Drugs for Non-Small Cell Lung Cancer - (

Source: Medindia

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