Integrated diagnostics powered by genomics set to transform India’s healthcare landscape in the next 5-7 years, ET HealthWorld
New Delhi: As the cost of genomic sequencing plummets, the field of genomics is undergoing a transformative phase, informs Dr Amit Kakar, Chairman of the Board, MedGenome. In an exclusive interaction with ETHealthworld’s Prathiba Raju, he discusses how, in the next five to seven years, integrated diagnostics—driven by advancements in genomics and technology—could fundamentally transform India’s healthcare landscape. Dr. Kakar affirms that genomics will become as routine as pathology and imaging, with high-quality, affordable genomic tests set to revolutionise the diagnostics landscape in India and expanding the reach of genomic healthcare globally. Genomics is advancing rapidly. How do you think these developments are reshaping the healthcare landscape, and what progress do you foresee in this field?
As we all know genomics isn’t new; it has been around for decades. Initially, the biggest challenge was the cost. When whole genome sequencing first began, it cost hundreds of thousands of dollars, making it accessible to only a select few. Fast forward to today, and advancements in technology have dramatically reduced costs to just a few hundred dollars. This affordability has driven greater adoption.
The reduction in cost comes from scaling up technology, optimising equipment, and making consumables more affordable. This, in turn, has increased accessibility, transforming the field of genomics.
How has affordability evolved over time, and what role has it played in the adoption of genomics?
The cost has dropped significantly, from hundreds of thousands of dollars to just a few hundred. This shift has democratised genomics, making it accessible to a much broader audience. Another remarkable change is the integration of AI and machine learning. Genomics generates enormous amounts of data, and AI is crucial for processing and interpreting this data effectively. AI also enables us to create data cohorts for studies, further advancing research.
How is MedGenome leveraging technology, and what role do AI and ML play in driving innovation?
We prioritise adopting cutting-edge technology. For example, we’ve recently acquired the NovaSeq X Plus, a state-of-the-art next-generation sequencing (NGS) machine from Illumina. This allows us to process more samples faster and at lower costs.
Beyond technology adoption, the company develops its own test modules tailored to diverse populations. Focus areas include cardiometabolic diseases, rare diseases, and newborn screening, among others. Strong bioinformatics capabilities have been built to interpret genomic data effectively. With over 600,000 patient records, AI and ML are being applied to analyze and generate actionable insights from this data.
One of our key innovations is the LINC (Lab In The Cloud) program, enabling us to collaborate with other providers worldwide. Even if they have sequencing machines but lack infrastructure, we can analyze their data through the cloud and provide actionable insights.
Looking ahead, we’re also working on cutting-edge advancements like single-cell genomics and liquid biopsy, ensuring we stay ahead in innovation while maintaining affordability and accessibility.
What’s the plan for expanding MedGenome’s reach, especially in markets like the U.S., China, and others? How do you view India’s genomic industry in the global context?
India is our core focus. There’s immense potential here, and we aim to make genomics more accessible to the general population. Recently, we’ve partnered with or acquired diagnostic chains like GenX, Prognosis, and Trident, extending our reach to Tier 2 and Tier 3 cities. Our vision is to create an integrated diagnostics ecosystem that combines imaging, pathology, and genomics under one umbrella.
Outside India, we see significant opportunities in South Asia and Southeast Asia, with ongoing projects in Bangladesh, Sri Lanka, Indonesia, and Vietnam. In the U.S., our focus is research and collaboration with academia and pharma companies. We also source cutting-edge technologies from the U.S. to bring back to India.
Regarding China, their stringent data policies limit collaboration, so we’re not pursuing that market. However, we’re active in regions like Africa, Latin America, and Turkey, providing services and partnerships. MedGenome is truly becoming a global player while maintaining India as its foundation.
China has stringent laws around data sharing. How do you think MedGenome should use disease profile data sets, and what kind of regulations should specifically address the genomic industry?
China is a unique case. The issue isn’t just about not sharing data but also about the government’s tight control over it. This makes it challenging to pursue innovative research or introduce new areas of genomics in China. Innovation thrives on data sharing, but in China, genomic data is a highly sensitive area, so we avoid engaging in anything that could be seen as risky.
Globally, we strongly believe in proper regulation and data management for genomics. MedGenome adheres to local regulatory policies for data capture and sharing in every country we operate in. We never handle data independently or share it without strict adherence to these regulations.
The benefits of genomic data are immense. For example, in the past, most diabetes treatments were based on Western genomic data, which isn’t always optimal for Indian patients. Indian genomic profiles are distinct, and that’s where genomic medicine plays a transformative role.
We collaborate with the right partners and frameworks to ensure that we stay compliant. We’ve worked with companies like Denali and Pfizer in the U.S. on genomic medicine initiatives. This allows us to contribute to advancements while respecting regulatory frameworks.
Preventive healthcare has gained attention since COVID-19, with many people exploring personalized medicine. This includes cancer screening, but such services are often expensive. How do you view the role of genomics in preventive healthcare, and how are you evolving in this space?
Preventive healthcare is vital, especially given the rising costs of managing chronic diseases. For example, China and India together spend nearly half a trillion dollars annually on diseases like stroke, diabetes, and hypertension. As populations age, these costs are only set to rise.
Routine checkups like cholesterol and blood pressure tests only give a partial picture. Genomics helps identify whether a condition is due to lifestyle factors or genetic predisposition, enabling more targeted interventions. Imagine a person with a family history of heart disease. With genomic data, we can determine their actual risk and suggest lifestyle changes or further screenings, such as coronary artery scans.
This approach extends beyond cardiology to oncology, neonatal diseases, and more. Genomics, combined with imaging and pathology, offers a comprehensive diagnostic framework. For example, we offer tests like Genessense, a panel for early screening, which I’ve personally tried. Integrated diagnostics enable more personalized and preventive care.
Preventive genomic health testing sounds promising, but affordability is a challenge for many in India. How are you addressing this, making genomic testing accessible to the broader population?
Affordability is a cornerstone of our mission to democratise genomic testing. Instead of importing expensive tests and passing on the costs to consumers, we develop our own tests in-house. This approach significantly reduces costs.
For instance, we’ve developed affordable screening tests like NIPT (for high-risk pregnancies) and newborn screening. Partnerships with organizations like GenX have allowed us to reach even economically weaker states like Odisha. Our goal is to expand into Tier 2 and Tier 3 cities while increasing our menu of tests to cater to a wide range of conditions, from cancer to heart disease.
By focusing on affordability, we ensure that genomic testing isn’t just for the privileged few but for everyone who can benefit from it.
Speaking of affordability, do you see a role for public-private partnerships (PPP) in making genomic testing accessible? Are you working with any state governments on such initiatives, or do you have plans to explore this model?
Public-private partnerships (PPP) are an excellent way to scale accessibility. We’re open to working with state governments to integrate genomic testing into public healthcare systems. Such collaborations could help reduce costs for the end user and bring advanced diagnostic tools to underserved areas.
As pioneers in genomics, we believe that a robust PPP model can help address chronic disease management, cancer screening, and other health challenges at a national scale. While we have yet to finalize specific models with state governments, we are actively exploring opportunities.
In the future, we also aim to launch tests that address unmet needs in the market, further broadening the scope of genomic healthcare in India.
As you focus on making genomic tests more affordable and expanding into Tier 2 and Tier 3 cities, do you see a role for Public-Private Partnerships (PPPs) in scaling access? Are there any discussions or plans to collaborate with state governments on these initiatives? If a PPP model were to be adopted, what structure do you envision? Additionally, are there specific tests or disease areas you haven’t yet explored but plan to focus on in the future?
As you know, Novo Holdings is already an investor in hospitals. We are investors in Medanta and Manipal, and we’re forming collaborative partnerships between MedGenome and these hospitals. These hospitals, including Manipal with its network of 33 facilities, are present in Tier 2 and some Tier 3 cities.
We are exploring the potential for a Public-Private Partnership (PPP) model, but it needs to be a win-win situation for both the government and us. We’re open to discussions with various state governments about the services they would like us to provide. Currently, PPP models in healthcare are predominantly focused on imaging and pathology. However, we believe that genomics could also be a part of this, and we are open to contributing in that space when the opportunity arises.
What profiles or tests do you think would be easier to begin with?
Tests that address common health concerns would be a good starting point. For instance, tuberculosis (TB) screening is a major mandate by the government under the “Stop TB” program, which is receiving significant investment. Two of our portfolio companies, MedGenome and Qure.ai, are already leaders in this space. MedGenome integrates genomics with AI, while Qure.ai focuses on AI-driven solutions, and together, we are making a significant impact in TB diagnostics.
What disease profiles should the genomics industry explore further, or what areas the company is yet to focus on?
MedGenome is already addressing a wide range of common diseases, and we’re expanding into rare diseases, including ophthalmology. One area we’re particularly focused on is liquid biopsy, a cutting-edge tool for early cancer detection. While we haven’t covered everything, our goal is to continue improving the tests we already provide while expanding into new areas.
As the new Chairman of the Board, you have significant responsibilities. What are your primary goals, and do you have a timeline to achieve them?
There’s a lot of pressure, absolutely! But I’m incredibly excited about this role because I’m passionate about MedGenome’s mission and its evolution over the last 8-9 years. As it is unique in not just providing services but also developing its own tests and research capabilities. Unlike many service providers that rely on purchased technology, the company creates proprietary tests, protocols, and advanced systems like our LIMS (Lab Information Management System), which rivals even global standards.
My priorities include continuing this innovation, making high-quality diagnostics more affordable and accessible, and expanding globally. MedGenome’s mission is to integrate genomics into routine healthcare, just as pathology and imaging are today. We also aim to establish partnerships to create integrated diagnostics solutions.
Five to seven years down the line, how do you envision integrated diagnostics changing India’s healthcare landscape?
Ideally, genomics will be as routine as pathology and imaging are today. We want to offer high-quality genomic tests at affordable prices, ensuring everyone can benefit from integrated diagnostics. This could significantly enhance early detection of both communicable and non-communicable diseases.
To achieve this, we need collaboration with private and government insurance schemes, like Ayushman Bharat, to incorporate genomic screening into primary healthcare. Our ultimate goal is to bring diagnostics to the primary healthcare level, where diseases can be detected at their onset.
With innovations like our LINC platform, we can provide advanced diagnostic capabilities without requiring expensive infrastructure, such as NGS systems. Technology, including AI and machine learning, will play a crucial role in democratizing healthcare access, enabling technicians in Tier 3 cities to leverage AI for accurate diagnostics.
It’s a long journey, but we’re on the right path, and I’m optimistic about the transformative potential of integrated diagnostics in the near future.
