Inside the Groundbreaking Genomics Revolution: Unfolding the rise of MedGenome

Tracking the journey of India’s leading genomics solutions company with a promising product portfolio in diagnostics and research services

The MedGenome’s story began almost a decade ago after the Human Genome project was completed. The project which had started with the goal of sequencing and identifying all base pairs in the human genetic instruction set, finding the genetic roots of disease and then developing treatments, inspired and paved the way for advances in medicine. The founders of MedGenome saw the potential of next generation sequencing in revolutionizing the healthcare landscape, making it affordable and accessible to the masses and improving outcomes.
In the year 2013 when MedGenome started its operations, the sequencing based genetic testing was not being offered in India. Since the samples were being sent outside of India to be processed, results would take long and were unaffordable for most patients. The cost of the first human genome sequencing was US $3 billion, later decreasing to US $10,000 in 2010, and finally reaching US $700 in 2022.
As pioneers in genetic testing, the company’s priority was to bring sequencing costs down and thus it set up South Asia’s largest next generation sequencing lab with the latest technology and infrastructure. Over the years, it added many new platforms from Illumina such as HiSeq 2000, 2500, 3000/4000, X10 and recently South Asia’s first NovaSeq X Plus from Illumina. This constant upgrade to latest technology has led to increase in throughput enabling more and faster sample analysis that has improved costs and turnaround times significantly. The NGS sequencing facility is supported by a sophisticated IHC pathology lab and modern molecular techniques such as FISH, PCR, Sanger Sequencing and Microarray to offer comprehensive diagnostic solutions to researchers, doctors and hospitals.
While most genomic databases and studies were western centric based on Caucasian populations, MedGenome steadily built South Asia specific databases and pipelines to provide accurate genomic insights for a vast range of diseases. A large bioinformatics team was set up to develop all the algorithms and tools inhouse so that it would not need to license anything from abroad.
As the company started its journey, lack of awareness around genetic disorders and available options of genetic testing, high cost of tests and absence of advanced healthcare infrastructure across the country were some of the initial challenges. Understanding genomics required professionals who would be skilled in biology, chemistry, and computer science, and India lacked sufficient local talent at that time.
It required senior scientists from the global research space to train personnel in India. Educating clinicians about the genetic tests and that the information could equip them with detailed insights on diseases was crucial for increasing adoption. Continuous Medical Education (CME) sessions for clinicians have been conducted by MedGenome on a regular basis. Initially, it collaborated with a few clinicians who sent samples to MedGenome and simultaneously to the US for comparing the results.
Positive feedback from clinicians, attesting to the accuracy of the tests from MedGenome, spread through word of mouth. Today, with scientific and technology innovations, market expansion, increased awareness, genomics has transformed the healthcare landscape. With advancements in disease classification and the emergence of more therapeutics, doctors are better equipped to identify and initiate appropriate treatment plans, leading to more actionable outcomes.
Unique positioning
The genetic richness of the Indian population had not been explored earlier. India’s diverse population, with its 4500 homogeneous sub-groups practicing endogamy, consanguineous marriages presented an opportunity to understand diseases.
While the MedGenome took the advantage of being the first mover, its journey has not been very easy one as clinician acceptance was a crucial part of the business. Despite the challenges, company remained focused on the goal of educating the prescriber community while overcoming the operational challenges. Along the way there were others from the scientific and investor community who believed in its vision and wanted to support its efforts. Over the period of time, company has associated itself with a large group of scientific key opinion leaders and is the most heavily funded player in this space in India.
Mahesh Pratapneni, Co-founder, Group CEO, MedGenome says, “While we started with a small prescriber base, today we have more than 12,000 clinicians and 4000 hospitals in our network. We are growing these relationships steadily based on trust and credibility of the brand.”
“Our diagnostics business has steadily grown over the past few years, and we now have over 60% of the NGS testing market in India. We cover all the major disease areas and have been increasing our geographic footprint across the country with a strong salesforce of more than 200 across India, dedicated to the respective segments. We have also successfully expanded to neighbouring countries such as Sri Lanka, Bangladesh, Malaysia, Middle East, Africa,” adds Pratapneni.
It took a while for the company to spread the awareness on the fact that genetic diagnostic tests are specialized tests and do not replace any of the existing diagnostic tests. And also that these tests can in fact provide new benefits in understanding the cause of the disease or in choosing the right treatment or for avoiding an unnecessary invasive procedure and can thus help save treatment costs and time significantly.
Key milestones
MedGenome being a pioneer in this field has many firsts to its credit. MedGenome was the first to bring Non-invasive Prenatal Testing to India validated by an India based study. It was also the first to launch Liquid Biopsy and clinical exomes for rare genetic disorders. Our SPIT Seq whole genome sequencing based test for TB is the first of its kind test which can identify MDR TB accurately at a quicker turnaround time than the current available tests. Our proprietary in-house database and AI/ML enabled bioinformatic suites strengthened us with data-driven insights and helped us in launching our preventive wellness testing category. It has developed Polygenic Risk Score (PRS) based genetic screening tests in our wellness portfolio which assess genetic risk of lifestyle diseases, such as Kardiogen test for heart health, Diabetogen for diabetes, Hypersense for hypertension and Neurosense for Parkinson’s and Alzhimer’s disease and many more.
MedGenome has made significant advances in scientific research, particularly in coronary artery disease, diabetes, and Parkinson’s disease etc. with over 100 publications in leading scientific journals. It is set to unveil the outcomes of a comprehensive analysis of 60,000 non-invasive prenatal tests (NIPT) with an impressive accuracy rate of approximately 99.3%, serving as a benchmark for the diagnostic community. Team has worked with oncologists to build a dataset of over 3000 lung cancer patients, revealing prevalent genetic mutations in Indian patients, guiding tailored treatment approaches.
The company is one of the founding members of Genome Asia 100 K (an initiative to sequence 100,000 South Asian genomes) addresses the limited representation of South Asian genomes in research, resulting in breakthroughs featured on the cover page of Nature. It leverages unique patient stories and case studies to develop innovative solutions, whether it is identifying effective treatments for specific patients or applying previously unexplored therapies shaping its diagnostic and treatment strategies. With an extensive genomic database which has identified around 30 to 40 million unique Indian variants, significantly enhances the accuracy and precision of its diagnostic reports.
Today, Genomics has emerged as one of the best ways to understand ailments and manage the therapy of some rare diseases and oncology and run the pro-active surveillance of risky populations.
Diverse Product Portfolio
MedGenome provides comprehensive genetic and molecular tests across multiple diseases, genetics, and lifestyle conditions – Actia (Inherited Genetics), Prima (Cancer Genetics), Claria (Reproductive Genetics), Micra (Infectious Disease Genetics) and Genessense (D2C wellness tests).
MedGenome’s research services are largely driven through its US office in Foster City, California. It provides high end sequencing and bioinformatics services to academic institutions and pharmaceutical companies. The research team has been leveraging its expertise in sequencing and analysis for drug discovery research. The exclusive access to Indian population genetic data over the years has helped it conduct Indian population-based disease research programs in various disease areas such as diabetes, auto-immunity, eye diseases, cardiology etc. Its research services help provide insights into complex diseases for drug discovery.
Cracking the Competition
Dr Vedam Ramprasad, PhD, CEO, MedGenome explains the company’s long-term vision: “Our dedication to scientific advancement is evident in our commitment to long-term affordability through meticulously crafted, science-driven solutions. With a focus on positioning Indian genomics globally, our solutions caters to diverse markets worldwide. Our expertise in data analytics enables the in-house development of a diverse range of tests at a fast pace catering to the dynamic needs of the medical community. We are a science driven company with a focus on finding treatment and management for critical diseases, both communicable and non-communicable diseases such as cancer, rare diseases, tuberculosis, muscular dystrophy etc.”
“While improving healthcare management for India, MedGenome also consciously worked on improving healthcare access and affordability for emerging consumers and developing an ecosystem that is more reflective of the consumers that global healthcare seeks to serve. MedGenome has built a complimentary business model that leverages India & South Asia’s unique founder populations to provide genetic diagnostics and enable genomics research. With phenotypic and genotypic data from the diagnostics business and in-house analytics capabilities through the bioinformatics platform,” adds Dr Ramprasad.
The space and business have evolved rapidly over the last few years. MedGenome’s diagnostic testing is expanding to emerging economies. It has acquired companies within India to expand our geographic footprint and reach across the country. Globally our research is focussing on omics solutions for pharma and academic partners enabling wider drug discovery initiatives.
The company has two business lines – with our diagnostics business growing at a more than 25% growth rate. It expects to continue to growing at this rate for the coming years. The research solutions cater to academic and pharma clients in the USA. The potential is huge and with the wide range of omics services, it is set to explore the potential significantly in the next few years. Since this is a dynamic field, and company’s leadership expects innovations to drive this business in the long term.
Market Potential
The broader genomics market has expanded, primarily due to increased awareness stemming from the COVID pandemic. However, the company sees this growth in larger cities and tertiary care settings. To make a more substantial impact, broadening its reach to primary and secondary areas will bring about transformative effects on a much larger scale.
Surajit Chakrabartty, CFO, MedGenome informs: “We have two business lines – with our diagnostics business growing at a more than 25% growth rate. We expect to continue to grow at this rate for the coming years. Our research solutions cater to academic and pharma clients in the US. The potential is huge and with the wide range of omics services we are set to explore the potential significantly in the next few years. Science based services have a long gestation period. This is a dynamic field, and we expect innovations to drive this business in the long term.”
“Despite the heightened awareness, we view ourselves as being in the initial phases of fully realizing the potential of this testing domain. Currently, we estimate that we are accessing less than 10% of the total potential, leaving ample room for further expansion and advancement,” adds Chakrabartty.
In terms of research market potential, the role of omics in biomarker discovery, clinical trials and antibody drug discovery and development stands now established. With an unexplored market opportunity worth more than a billion dollars, the company aims to tap a huge market potential.
Technology Trends
Next generation sequencing (NGS) is increasingly being used in clinical settings for a wider range of applications, including rare disease diagnosis, and monitoring minimal residual disease in cancer patients. Some examples are the latest Liquid biopsy techniques, leveraging NGS, are gaining traction for non-invasive detection of genetic alterations in cancer through the analysis of circulating tumour DNA (ctDNA). This approach allows for real-time monitoring of cancer progression and treatment response. Our SPIT-SEQ test for Tuberculosis is an example of how the company has leveraged its expertise in genomics and technology to cater to the market needs.
India is one of the top 3 countries with the largest number multi-drug resistant TB cases that constitute 43% of global cases. MedGenome’s SPIT-SEQ test sequences the whole genome of Mycobacterium Tuberculosis (Mtb) from the sputum of patients suffering from tuberculosis. The existing molecular techniques have a limitation of covering only a few drugs. Our test covers all drug resistance markers – reported as well as novel. The use of sputum eliminates the requirement of growing a culture and hence reduces the time delay in diagnosis and can be used for strain typing, epidemiology studies and disease surveillance.
Future Outlook
The ever increasing public interest in personalized medicine and genetic testing have contributed to the growth potential of genomics companies like MedGenome. As awareness of the importance of understanding genetic predispositions to diseases and optimizing treatments grows, so does the demand for genomics services and products. Moreover, collaborations with research institutions, healthcare providers, and biotech firms can expand the reach and impact of the company, fostering innovation and driving market growth.
As genomics moves towards democratization, strengthening local presence is crucial for the company and it plans to do substantial investments in this domain. MedGenome’s strategic approach involves an expanded geographical footprint beyond India while intensifying its domestic network. With the rapid pace of technological innovation and the expanding applications of genomics across diverse sectors, the company is looking at expanding globally as it is inclined towards building its research services portfolio to enable drug discovery for a wide range of diseases.
“We will continue to build more research partnerships in India with hospitals and scientific institutions. These engagements are rooted in research and academic collaborations with a focus on practical applications. In terms of our products, we are very optimistic about the role of genomics in liquid biopsy, TB and the preventive wellness tests in bringing positive outcomes for the patients,” says Pratapneni while outlining the key priorities.

*This story was first featured in the March-April 2024 edition of BV eMagazine.