April 08, 2026
MedGenome study indicates indigenous RNA NGS to aid sarcoma diagnosis
April 08, 2026
MedGenome study indicates indigenous RNA NGS to aid sarcoma diagnosis
Fortune India
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.
Medcare was founded in 2012 by Dr Atul Marwah, a nuclear medicine specialist, and Dr Ruchira Marwah, a radiologist. The company operates four imaging facilities in Chembur, Goregaon, Andheri and Navi Mumbai. Its services include PET-CT, CT, mammography, nuclear medicine scans and theragnostic facilities. Over the past decade, Medcare has partnered with more than 50 hospitals and physicians across Mumbai.
Dr Amit Kakar, Managing Partner and Head of Asia at Novo Holdings, and Chairman of the Board of MedGenome, said, “MedGenome’s investment in Medcare marks an important step in strengthening its vision of building an integrated diagnostics ecosystem for India. By bringing together Medcare’s imaging and pathology expertise with MedGenome’s leadership in multi-omics, this partnership expands access to earlier and more precise diagnostics for patients. As an investor, Novo Holdings is pleased to support this next phase of growth as the company continues advancing high-quality, science-led healthcare.”
Surajit Chakrabartty, CFO of MedGenome, said, “Integrating Medcare with MedGenome further strengthens our presence in western India and aligns with our long-term vision of building a unified, integrated diagnostics ecosystem. Diagnostics is the critical starting point in disease management. As leaders in omics-led diagnostics, this strengthens our ability to deliver comprehensive, end-to-end solutions across the patient journey. Our mission has been to improve early and accurate diagnosis and targeted treatment, making affordable precision healthcare accessible to patients across the country, and we will continue to work towards this with like-minded partners.”
The companies stated that nuclear medicine plays a role in oncology, cardiology and neurology for diagnosis and treatment planning. PET-CT imaging, combined with genetic tests, supports cancer detection and influences treatment and monitoring.
Dr Atul Marwah, Founder, Medcare, said, “For over a decade, Medcare has been committed to delivering high-quality, accessible radiology and nuclear medicine services to patients across Mumbai. As a part of MedGenome, Medcare can unlock significant growth opportunities, enabling us to offer integrated imaging, pathology, and genomics solutions, which are especially critical in oncology and the management of complex diseases. We’re excited to continue leading Medcare into its next phase of expansion.”
MedGenome stated that the collaboration supports its strategy to build an integrated diagnostics platform with a focus on multi-omics by strengthening its capabilities across radiology, pathology and genomics and expanding access to precision diagnostics across India.