Development and Clinical Utility of a Blood-Based Test Service for the Rapid Identification of Actionable Mutations in Non–Small Cell Lung Carcinoma

Nearly 80% of cancer patients do not have genetic mutation results available at initial oncology consultation; up to 25% of patients begin treatment before receiving their results. These factors hinder the ability to pursue optimal treatment strategies. This study validates a blood-based genome-testing service that provides accurate results within 72 hours. We focused on targetable variants in advanced non–small cell lung carcinoma—epidermal growth factor receptor gene ( EGFR ) variant L858R, exon 19 deletion (ΔE746−A750), 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 included method and clinical validation using samples from donors with ( n = 219) or without ( n = 30) cancer. Clinical sensitivity and specificity for each variant ranged from 78.6% to 100% and 94.2% to 100%, respectively. We also report on 1643 non–small cell lung carcinoma samples processed in our CLIA-certified laboratory. Mutation results were available within 72 hours for 94% of the tests evaluated. We detected 10.5% mutations for EGFR sensitizing ( n = 2801 samples tested), 13.8% mutations for EGFR resistance ( n = 1055), 13.2% mutations in KRAS ( n = 3477), and 2% mutations for EML4-ALK fusion ( n = 304). This rapid, highly sensitive, and actionable blood-based assay service expands testing options and supports faster treatment decisions.