Blood-Based Genome Testing Feasible for Rapid Mutation Assay

This article originally appeared here.
Share this content:
Blood-Based Genome Testing Feasible for Rapid Mutation Assay
Blood-Based Genome Testing Feasible for Rapid Mutation Assay

WEDNESDAY, April 26, 2017 (HealthDay News) -- A blood-based genome testing service provides accurate results within 72 hours, according to a study published online April 19 in the Journal of Molecular Diagnostics.

Hestia Mellert, Ph.D., from Biodesix Inc., in Boulder, Colorado, and colleagues validated a blood-based genome testing service by focusing on targetable variants in advanced non-small-cell lung carcinoma: epidermal growth factor gene (EGFR) variant L858R, exon 19 deletion and T790M; GTPase Kirsten ras gene (KRAS) variants G12C/D/V; and echinoderm microtubule associated protein like and 4 anaplastic lymphoma receptor tyrosine kinase fusion (EML4-ALK) transcripts 1/2/3. Test development and clinical validation were performed on samples from 219 donors with and 30 without cancer.

The researchers found that for each variant, the clinical sensitivity ranged from 78.6 to 100 percent, and specificity ranged from 94.2 to 100 percent. Results were also available for 1,643 non-small-cell lung carcinoma samples, with mutation results available within 72 hours for 94 percent of tests evaluated. Overall, 10.5, 13.8, 13.2, and 2 percent of mutations were detected for EGFR sensitizing, EGFR resistance, KRAS, and EML4-ALK fusion, respectively.

"This rapid, highly sensitive, and actionable blood-based assay service expands testing options and supports faster treatment decisions," the authors write.

Several authors disclosed financial ties to Biodesix Inc., which funded the study. Several authors are co-inventors on a patent application filed by Biodesix, covering a diagnostic test system for the detection of circulating genetic variants in non-small-cell lung cancer.

Abstract
Full Text

Share this content:

is free, fast, and customized just for you!

Already a member?

Sign In Now »


Sign up for myCME e-newsletters


Drug Lookup

Browse drugs by: BrandGenericDisease

Trending Activities

All Professions

More in Home

SAMHSA: Youth Binge Drinking Rates Down in the United States

SAMHSA: Youth Binge Drinking Rates Down in the ...

But one in seven still consumed excess alcohol at least once in past month, study finds

Carpal Tunnel Up With Increased Electronic Device Use

Carpal Tunnel Up With Increased Electronic Device Use

Especially for those who spend more than five hours a day on their devices, researchers say

Guided Approach to Exercise May Help Chronic Fatigue Patients

Guided Approach to Exercise May Help Chronic Fatigue ...

Guided self-help approach to graded exercise program safe, reduces fatigue

is free, fast, and customized just for you!

Already a member?

Sign In Now »