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10 innovative diagnostic tests to combat diseases

May 19, 2017 By Danielle Kirsh

lung cancer tumor

CT scan showing a cancerous tumor in the left lung. [Image from Wikipedia]

5. Blood tests detect genetic mutations for targeted lung cancer treatment

A new blood test can accurately and quickly identify genetic mutations associated with non-small-cell lung cancer (NSCLC) to help doctors make early and individualized treatment choices.

“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,” said Gary A. Pestano, PhD., VP of development and operations of co-inventor of the test Biodesix, in a ScienceDaily article.

The test uses highly sensitive gene mutation detection based on the partitioning of DNA into droplets to detect specific tumor DNA mutations and RNA variants in the blood.

About 94% of test results were available within 72 hours of having the test completed.

More than 1,600 samples were analyzed in this study. of the samples, 10.5% had EGFR sensitizing, 18.8% EGFR resistance, 13.2% KRAS and 2% EML4-ALK (anaplastic lymphoma kinase) mutations. The test was more than 80% sensitive and had 100% specificity for detecting each mutation.

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