Clinical actionability of Comprehensive Genomic Profiling in India

The validation and clinical utility of Comprehensive Genomic Profiling (CGP) for identifying somatic genomic mutations have been challenging within the Indian Oncology practice. The primary obstacles to establishing clinical utility are cost, availability, lack of expertise in testing, adoptability and implementation of therapeutic recommendations. However, the absence of standardized laboratory methods in Indian cases has not been previously addressed. We validated a widely applied CGP assay, TruSight Oncology 500, in a reference laboratory. Subsequently, the clinical utility in a series of 192 cases comprising late-stage tumor specimens from common solid cancer types was examined. The identified somatic variants were classified based on the AMP Tier classification to determine their clinical utility. Lung adenocarcinoma was the most common, followed by breast and gastrointestinal cancers. The most common genes with mutations were TP53 (36.5 %), MYC (29.7 %), EGFR (20.8 %), KRAS (16 %), PIK3CA (20.6 %), BRAF (11 %), and ERBB2 (10 %). Therapeutic recommendations based on AMP Guidelines Tier 1A were found in 33 % of cases, Tier 1B in 49 %, and Tier IIC in 83 % of cases. TMB-high (>10muts/Mb) in 21.5 % of cases, TMB-Low (≤9 muts/Mb) in 77.6 % of cases, MSI-L (1–30 %) was identified in 85.4 % of cases, and MSS (<1 %) in 14 % of cases. Overall, we identified therapeutically actionable mutations in 83 % of cases of solid tumors that had undergone CGP.