MedGenome study indicates indigenous RNA sequencing platform to aid sarcoma diagnosis

In a first of its kind study in India, genomics-driven diagnostics and research services company MedGenome has shown that RNA-based next-generation sequencing (NGS) for soft tissue and bone sarcoma ( a rare type of cancer) diagnosis could lead to accurate diagnosis and better treatment decisions.

India's first prospective study assessing the clinical utility of NGS for soft tissue and bone sarcoma was conducted in collaboration with India’s leading hospitals between 2022 and 2025. It demonstrated that introducing targeted RNA sequencing into a multidisciplinary team (MDT) workflow can substantially enhance diagnostic clarity and aid treatment decisions for sarcomas, especially in patients with ambiguous or complex presentations. The results of the study have been published in the Journal of Global Oncology.

“We are pleased to have demonstrated how our in-house developed RNA sequencing platform for sarcoma diagnosis complements conventional testing. This study also reaffirms MedGenome’s commitment to Aatmanirbhar Bharat and provides definite evidence that affordable indigenous solutions can deliver high diagnostic value for one of the most challenging cancer types. We hope this will guide more accurate diagnosis and personalized treatment for sarcomas and provide positive outcomes for patients across the country”, Vedam Ramprasad, PhD, CEO, MedGenome, said.

For this study, 68 patients with unclear diagnoses based on their pathological indications were considered for evaluation after an MDT review. All samples were analyzed with MedGenome's CAP-accredited indigenous RNA fusion panel, which is custom-designed for sarcomas and implemented in concordance with the WHO 2021 classification. The study showed that the RNA-based NGS provided clinically informative findings in half of all evaluated cases. Notably, diagnostic refinement or reclassification could be achieved in over 40% of patients, while treatment decisions changed in more than a quarter of cases according to molecular results.

The study also highlights the opportunity of implementing cost-effective genomic testing in low and middle-income countries. MedGenome's sarcoma panel enables the detection of both canonical and ultra-rare gene fusions, many of which could have gone undetected by universal testing methods. By integrating these results into MDT discussions, clinicians can avoid ineffective chemotherapy regimens, confirm rare histologic subtypes, and make more informed therapeutic decisions, the company states.

"Sarcomas often sit at the crossroads of overlapping morphology and unpredictable clinical behaviour. For a large proportion of patients, conventional tools such as Histopathology, Immunohistochemistry (IHC), or Fluorescence In Situ Hybridization (FISH) are not enough to arrive at a definitive diagnosis. This prospective study distinctly shows that RNA-based NGS offers the resolution we need to classify difficult tumours correctly and, in many cases, course-correct treatment plans before precious time is lost", Charu Bahl, General Manager - Scientific Affairs, MedGenome, said.

Investigators note that this study represents a major advancement in establishing evidence-based precision diagnostics for sarcomas in India, to ensure accurate diagnoses and enhance the quality of cancer care, especially where resources are limited.