New Blood Test Offers Potential for Faster, Targeted Treatment of Non-Small-Cell Lung Cancer

Identification of “actionable mutations” within 72 hours can shorten lag time between diagnosis and optimal treatment, reports The Journal of Molecular Diagnostics

Philadelphia, PA, April 19, 2017

Identification of a specific genetic mutation in patients with non–small-cell lung cancer (NSCLC) helps clinicians select the best treatment option. Potential NSCLC patients usually undergo invasive tissue biopsy, which may often be unnecessary and delays treatment. A report in The Journal of Molecular Diagnosticsdescribes a new blood test that can accurately and quickly identify genetic mutations associated with NSCLC, allowing clinicians to make earlier, individualized treatment choices – a step forward in personalized cancer treatment.

“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.

An actionable mutation plays an important role in the development or progression of a tumor. Specific therapies that target a mutation can improve outcomes, such as reducing the risk of death or lessening the severity of disease.

In the case of NSCLC, certain genetic mutations can be used to identify patients who might be sensitive or resistant to a particular cancer therapy. For example, epidermal growth factor (EGFR) mutations may result in sensitivity to drugs that are EGFR tyrosine kinase inhibitors (TKIs), such as erlotinib or gefitinib, whereas individuals with the EGFR T790M mutation are more resistant to these drugs. Patients with ALK rearrangements do not respond to EGFR-TKIs, but are sensitive 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.

The new test uses a highly sensitive gene mutation detection method that is based on the partitioning of DNA into droplets to detect specific circulating tumor DNA mutations and RNA variants in whole blood.

Testing for circulating free DNA using droplet digital PCR at Biodesix. Credit Biodesix, Inc.

Of the more than 1,600 samples tested, 10.5% had EGFR sensitizing, 18.8% EGFR resistance, 13.2% KRAS, and 2% EML4-ALK (anaplastic lymphoma kinase) mutations. The test showed high sensitivity (>80%) and specificity (100%) for detecting each type of mutation. In most cases, blood tests and tissue biopsies yielded the same results.

Another advantage of the test is that it can be performed quickly: 94% of results were available within 72 hours of blood draw. In contrast, results from tissue-based testing can take weeks to obtain and can therefore delay time to treatment. In addition to providing insights regarding selection of treatment, this blood test may also prove helpful in assessing the presence of residual disease, recurrence, or relapse and detection of therapy-resistant cancer cells more quickly than conventional tissue-based methods.

The majority of samples came from patients under the care of community physicians. “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,” commented 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.”

---

Notes for editors
The article “Development and Clinical Utility of a Blood-Based Test Service for the Rapid Identification of Actionable Mutations in Non-Small-Cell Lung Carcinoma,” by Hestia Mellert, Trudi Foreman, Leisa Jackson, Dianna Maar, Scott Thurston, Kristina Koch, Amanda Weaver, Samantha Cooper, Nicholas Dupuis, Ubaradka G. Sathyanarayana, Jakkie Greer, Westen Hahn, Dawne Shelton, Paula Stonemetz, and Gary A. Pestano (http://dx.doi.org/10.1016/j.jmoldx.2016.11.004 ). It will be published in The Journal of Molecular Diagnostics, volume 19, issue 3 (May 2017) by Elsevier.

Full text of this study is available to credentialed journalists upon request; contact Eileen Leahy at +1 732-238-3628 or jmdmedia@elsevier.com. Journalists wishing to reach the authors should contact Rachel Biederman, Biodesix, at +1 720-214-5774 or rachel.biederman@biodesix.com.

About The Journal of Molecular Diagnostics
The Journal of Molecular Diagnostics, the official publication of the Association for Molecular Pathology, co-owned by the American Society for Investigative Pathology, and published by Elsevier, Inc., seeks to publish high quality original papers on scientific advances in the translation and validation of molecular discoveries in medicine into the clinical diagnostic setting, and the description and application of technological advances in the field of molecular diagnostic medicine. The editors welcome review articles that contain: novel discoveries or clinicopathologic correlations, including studies in oncology, infectious diseases, inherited diseases, predisposition to disease, or the description of polymorphisms linked to disease states or normal variations; the application of diagnostic methodologies in clinical trials; or the development of new or improved molecular methods for diagnosis or monitoring of disease or disease predisposition.

The Journal of Molecular Diagnostics, with an Impact Factor of 5.201, ranks 7th among 78 journals in Pathology, according to 2015 Journal Citation Reports® Thomson Reuters, 2016. http://jmd.amjpathol.org

About Elsevier
Elsevier is a global information analytics company that helps institutions and professionals progress science, advance healthcare and improve performance for the benefit of humanity. Elsevier provides digital solutions and tools in the areas of strategic research management, R&D performance, clinical decision support, and professional education; including ScienceDirect, Scopus, ClinicalKey and Sherpath. Elsevier publishes over 2,500 digitized journals, including The Lancet and Cell, more than 35,000 e-book titles and many iconic reference works, including Gray's Anatomy. Elsevier is part of RELX Group, a global provider of information and analytics for professionals and business customers across industries. www.elsevier.com

Media contact
Eileen Leahy
Elsevier
+1 732-238-3628
jmdmedia@elsevier.com