Empowering precision medicine in rural India by establishment of a molecular genetics laboratory in Bihar: A prospective observational study

ABSTRACT Background: In the era of precision oncology, molecular profiling and targeted therapies are integral to cancer management. However, accessibility remains a challenge in rural India. Objectives: The primary objective was to showcase the lab’s milestones using in-house next-generation sequencing (NGS)/qualitative real-time polymerase chain reaction (qRT-PCR) diagnostic data from patients with cancer. The secondary objective was to highlight the benefits of integrating NGS with precision medicine in rural India despite resource challenges. Materials and Methods: This prospective observational study was conducted at Homi Bhabha Cancer Hospital and Research Center, Muzaffarpur, Bihar, between November 2022 and December 2023. A 72-gene panel was validated as per National Accreditation Board for Testing and Calibration Laboratories (ISO15189/CAP/AMP/NABL) recommendations and implemented in routine clinical testing across multiple cancers. qRT-PCR was also established for detecting actionable mutations in epidermal growth factor receptor ( EGFR exons 18-21) for lung cancer, NRAS/KRAS/HRAS/BRAF genes, and dihydropyrimidine dehydrogenase ( DPYD ) polymorphisms ( DPYD*2A/*13/D949V/IVS10 ) for recommended cases. Results: In one year (November 2022 to December 2023), we performed 146 tests on Indian patients with cancer: 71% ( n = 103) with NGS and the remainder with qRT-PCR. Among NGS cases, 71% ( n = 73) involved lung cancer, while the rest covered various cancer types. Alterations in well-known driver genes were identified across the cancer types, and their frequencies were matching with the incidence reported in Indian literature. Conclusion: Operating high-end technology in a peripheral center grapple with unique challenges, often demanding resourcefulness and innovation. Nevertheless, our laboratory has made significant strides with every test performed in implementing precision medicine in a seemingly remote setting in rural India.