MedGenome, a genomics-driven diagnostics and research services company in India, has announced the findings of the country’s first prospective study evaluating the clinical utility of RNA-based next-generation sequencing (NGS) in diagnosing soft tissue and bone sarcomas. The study underscores the growing importance of advanced genomic technologies in improving cancer diagnosis and treatment outcomes.

Conducted between 2022 and 2025 in collaboration with leading hospitals across India and published in the Journal of Global Oncology, the study assessed how targeted RNA sequencing can enhance diagnostic precision when integrated into a multidisciplinary team (MDT) workflow. The research aligns with the theme of World Health Day (April 7)—’Together for health. Stand with science’—highlighting the role of collaborative, science-led approaches in strengthening healthcare systems.

The study evaluated 68 patients with inconclusive diagnoses based on conventional pathological methods. Using MedGenome’s CAP-accredited indigenous RNA fusion panel, designed in accordance with the WHO 2021 classification for sarcomas, researchers found that RNA-based NGS delivered clinically relevant insights in 50 percent of cases. Importantly, diagnostic refinement or reclassification was achieved in over 40 percent of patients, while treatment decisions were altered in more than 25 percent of cases based on molecular findings.

Experts noted that sarcomas often present diagnostic challenges due to overlapping morphological features and variable clinical behaviour. Traditional tools such as histopathology, immunohistochemistry (IHC), and fluorescence in situ hybridization (FISH) may not always provide definitive answers. The study demonstrates that RNA-based NGS can address these gaps by enabling accurate tumour classification and guiding timely, personalised treatment strategies.

According to MedGenome, its sarcoma panel is capable of detecting both common and rare gene fusions that may be missed by conventional testing methods. Integrating these genomic insights into MDT discussions allows clinicians to avoid ineffective treatments, confirm rare subtypes and make more informed therapeutic decisions.

The findings also highlight the feasibility of implementing cost-effective, indigenous genomic solutions in low- and middle-income countries. By supporting precise diagnosis and optimised treatment pathways, such technologies have the potential to significantly improve patient outcomes while reducing the burden on healthcare systems.

Investigators described the study as a major step forward in establishing evidence-based precision diagnostics for sarcomas in India, reinforcing the country’s capabilities in delivering affordable, high-quality cancer care through innovation and collaboration.