Behind the goldrush to bring DNA testing to India

The genomic report arrives on Dr. Mandeep Singh Malhotra’s desk as early morning sun fills the oncology wing at New Delhi’s CK Birla Hospital.

It is 7:40 am, minutes before the outpatient department opens, and he knows the contents of the envelope could alter the patient’s treatment pathway.

Inside the envelope is a multi-gene tumour sequencing report, one of the thousands being processed each week in India. The report will determine whether targeted therapy is an option or whether chemotherapy should continue.

“There is no room for guesswork anymore,” says Dr. Malhotra, his eyes darting through the variants, amplifications and deletions suggested in the report.

A few years ago, this test would have taken weeks, cost many times what it does now, and required samples to be shipped to labs abroad. That has changed. India’s hospital chains, diagnostics networks and global investors have poured hundreds of millions of dollars into gene sequencing, bioinformatics and population-scale genomic capacity to bring DNA testing to the doorstep of Indians.

Clinical decisions, insurance approvals and oncology pathways are now moving in step with a new architecture. Specialists like Dr Malhotra, who is Director of Surgical Oncology at CK Birla Hospital, now treat genetic information as essential.

A genomic report details findings from genetic analysis, identifying DNA variations, crucial for diagnosing diseases, predicting prognosis, and guiding therapies, especially in cancer.

The testing process begins with a sample usually extracted from a blood or tissue in a tumour. Genomic testing works by reading a patient’s DNA. A lab machine, called a sequencer, “reads” the vast chemical library, creating billions of data points.

Experts then use advanced software and artificial intelligence (AI) to compare the patient’s DNA sequence against a standard human or a population-specific reference. This comparison flags minute errors or variants—like a misspelled word in a user’s manual—that cause disease or predict how a patient will respond to a drug.

The Demand Surge

At tertiary cancer centres in Bengaluru, Hyderabad, Mumbai, Pune and Gurugram, oncologists notice that patients and clinicians are ordering multi-gene panels at volumes unimaginable even five years ago. “Oncology continues to drive the highest demand for genomic testing in India,” says Dr Shrinidhi Nathany, consultant of Molecular Haematology and Oncology at Fortis Memorial Research Centre in Gurugram, who works at the intersection of targeted therapies and next-generation sequencing.

She sees genomic profiling becoming so routine that therapy selection without molecular input would be incomplete.

“We use it to guide therapy, detect resistance and monitor minimal residual disease,” she says, noting a marked increase in adoption every quarter.

Rare-disease diagnostics, once scattered across a handful of paediatric geneticists, have also expanded. With clinical exome sequencing—a DNA test for rare genetic disorders—becoming more accessible and reporting improving quality, paediatricians are increasingly turning to genomics when investigations for delays or undiagnosed syndromes reach a dead end.

“Rare disease diagnostics are rising steadily,” Dr. Nathany says, adding that improved turnaround times make it easier for clinicians to integrate genomic findings into management decisions.

Reproductive genomics forms a third, rapidly growing pillar. Fertility clinics, maternal-foetal medicine specialists and high-risk obstetrics units increasingly rely on Non-Invasive Prenatal Testing (NIPT), carrier screening and pre-implantation genetic testing.

Genome-based pregnancy management, once limited to tertiary centres, is now extending into private chains that treat genomics as essential for modern prenatal care.

“The demand for genomic testing in India has seen a major surge over the last five years,” says Anuradha Acharya, CEO of Mapmygenome and Microbiome Insights. Part of this, she explains, is rooted in heightened post-pandemic health awareness. But the more structural change is hospitals integrating genomics into preventive packages, allowing consumers to access carrier status, cardiometabolic risk and pharmacogenetic information.

Reducing uncertainty

Acharya notes that clinical confidence is rising as AI-validated datasets reduce interpretation uncertainty.

“There has been a major spurt in testing,” she says, emphasising the expanding influence of the government-backed Genome India project, which is generating population-specific reference data that clinicians have for long lacked.

Strand Life Sciences, one of India’s earliest genomics companies, has seen a surge in testing too.

“Advances in precision medicine are driving a strong need for genomic testing,” says CEO Ramesh Hariharan. He says oncologists seek full genomic profiles upfront rather than sequencing them piecemeal, as well as fetal medicine specialists and paediatric specialists incorporating genomic probabilities into first-line evaluation.

India’s diagnosis ecosystem now actively depends on sequencing infrastructure. Tumour boards routinely factor in genomic mutation burdens; neurologists request genetic clues for movement disorders or refractory epilepsies; nephrologists evaluate hereditary kidney disease gene panels; and cardiologists incorporate cardiomyopathy variants into family counselling.

Clinical genomics has moved from the periphery to the core of decision-making. And for the first time, demand is rising nearly in tandem across all four major segments of oncology, rare diseases, reproductive genomics and preventive health, producing the fastest adoption phase in India’s short genomics history.  

Why investors are betting big

Investor conviction has sharpened as clinical demand scaled. According to healthcare private equity firm Quadria Capital’s market assessment, India’s DNA and genome sequencing market, valued at $270 million in 2023, is projected to reach $1.4 billion by 2030, at a compound annual growth rate (CAGR) of 27%. Quadria also estimates the precision-medicine market at $2 billion today and $5.8 billion by 2030.

“The trend shows consistent year-on-year growth, accelerating after 2022 as clinical adoption expands,” says Sunil Thakur, Partner and Investment Committee Member at Quadria Capital.

Thakur notes that India’s genomics investment climate underwent a recalibration after the exuberance of 2020–22. As markets corrected, revenue multiples stabilised. “Revenue multiples have stabilised between five and seven times, with the recent median around six times EV (Enterprise Value)/Revenue,” he says.

Far from slowing momentum, this recalibration tightened investor discipline, reducing speculative bets and concentrating capital on companies with deep clinical utility, strong physician ecosystems, and clear pathways to profitability.

This discipline is visible in the kinds of transactions restructuring the sector: Reliance Industries’ acquisition of Strand Life Sciences, Metropolis Healthcare’s acquisition of Core Diagnostics, and Manipal HealthMap’s purchase of iGenetic Diagnostics.

India’s fragmented pathology market, valued at $8 billion and home to over 150,000 labs, is structurally poised for consolidation.

In high-end molecular diagnostics, where capital intensity and accreditation demands are steep, standalone labs struggle to stay competitive.

“Smaller laboratories face sustainability challenges, making them attractive acquisition targets,” Thakur says.  

Investor attention is overwhelmingly tilted toward clinical genomics. Quadria and HealthQuad, a new-age healthcare investor, estimate approximately 75% of all capital flows go into clinical areas of oncology, rare diseases, reproductive genomics and precision therapy-linked panels.

Less than 15% goes toward consumer genomics. “Investors emphasise clinical applications with measurable patient outcomes,” Thakur says, stressing that hospital partnerships and clinician buy-ins now matter more than anything else.

Eight Roads Ventures reads the landscape similarly. “The majority of financing continues to flow into clinical genomics and sequencing infrastructure,” says Ashish Venkataramani, Partner at Eight Roads Ventures India.

India’s genomics infrastructure is still smaller than those of China and Singapore, where sustained state investment built national databases and large-scale sequencing capacity. According to global sequencing briefs referenced by Illumina and MarketsandMarkets, India’s whole-genome sequencing share remains under 2% of the global market.

Investors believe India’s genetic diversity, cost-efficient research base, large patient volume, and emerging clinical-trial ecosystem create a long-term advantage. “India’s growth trajectory mirrors China’s, but lags by about five years,” Thakur says.  

Where investors see the next big wave differs by sector but aligns on a few themes: AI-enabled genomic interpretation, population-scale sequencing and rare-disease diagnostics. Companies like Vgenomics, building AI-driven interpretation engines, say automation will fill the gap created by India’s shortage of genetic counsellors and bioinformaticians.

Public projects such as Genome India and the Bharat Cancer Genome Atlas are expected to enrich India-specific datasets, enabling more accurate variant interpretation and opening new commercial pathways in pharmacogenomics and precision therapeutics.

Despite momentum building, risks remain. Thakur of Quadria Capital outlines the five constraints every investor maps: testing costs still ranging between `20,000 and `50,000; insurance reimbursement is limited; national genomic databases are still inadequate; the regulatory frameworks are evolving; and there is a shortage of specialised talent.

“We support companies with AI-driven interpretation and hospital networks that can bring prices under `10,000 per test,” he says. Yet the sector continues to attract capital.

Quadria Capital and HealthQuad have doubled down on genomics, illustrating a long-term hope that India will become a major sequencing market in Asia.

Inside the lab

Without the massive infrastructure build-out underway across labs, hospitals and sequencing companies, India’s genomics push would not be viable. That build-out is accelerating on multiple fronts: data generation, sequencing throughput, automation, bioinformatics and clinical integration.

“Diagnostics in India has mostly been reactive,” says Surajit Chakrabartty, the Chief Financial Officer of MedGenome. “Genomic testing sits at the highest end of the diagnostic spectrum,” he says, noting that awareness, affordability, and access have historically been the biggest barriers.

Yet, demand is rising. Oncology and rare-disease testing lead the surge, while preventive genomics boosted by younger consumers is emerging rapidly. “…but penetration is low. Growth remains strong with significant untapped potential,” he says.

MedGenome runs a 30,000-sq-ft multiomics laboratory in Bengaluru, one of the largest of its kind in South Asia. It has processed over 500,000 genomes and exomes and serves more than a million patients. Its high-throughput sequencers, bioinformatics engines, and AI-driven interpretation workflows aid many hospital-driven tests.

Most of its revenue comes from clinician-prescribed testing, supported by partnerships with 8,000 hospitals and 24,000 clinicians. The company recently raised $47.5 million. AI is vital to its workflow.

“Our bioinformatics tools help identify population-specific variants and improve clinical relevance for the Indian population,” Chakrabartty says.

Metropolis Healthcare is placing high-end genomics at the core of its growth strategy. “Genomic testing in India has shifted from a specialised offering to a key driver of personalised medicine,” says Surendran Chemmenkotil, Managing Director. Its oncology, reproductive genomics and rare-disease segments are seeing steep demand curves. The company has committed `20 crore over three years to expand sequencing capacity.

Metropolis now sees genomics growing three times faster than its broader diagnostics portfolio. Although it currently contributes a single-digit percentage of revenue, it is already at break-even.

Strand Life Sciences is scaling capacity through its new Genomic Diagnostics & Research Center in Bengaluru. The facility is designed to triple growth.  

Illumina, the global sequencing company, is expanding access to advanced sequencing across India, including Tier-II and Tier-III cities. “In India, non-communicable diseases account for two-thirds of deaths,” says Suchita Dayanand, Country Head–India (Commercial), Illumina.

GLOBOCAN 2024, the global cancer burden database maintained by the International Agency for Research on Cancer (IARC) under the World Health Organization, says India recorded an estimated 1.56 million new cancer cases and around 870,000 cancer-related deaths in 2024.

“This highlights the urgency for precision medicine,” Dayanand says. Illumina expects its India business to grow three to five times over the next seven years. Its contributions to the Genome India project—enabling the sequencing of over 10,000 Indian genomes—are very significant for precision-medicine foundation.

Apollo Hospitals is also building institutional genomics capacity. The Apollo Genomics Institute in Karnataka brings advanced diagnostics, counselling, and prenatal screening into mainstream care.

“We are revolutionising healthcare by making advanced genetic diagnostics accessible,” says Dr Manish Mattoo, CEO for Karnataka and the Central Region. The institute embeds genomics into oncology, obstetrics, paediatrics, neurology and nephrology.

Even at the clinician level, the movement is visible. Dr. Nathany notes that sequencing has become integral to patient stratification, trial recruitment and biomarker-driven therapy decisions. His laboratory operates at 70% utilisation.  

Can India build affordable, equitable nationwide genomics?

By 2030, genomics is expected to be embedded across mainstream clinical care, becoming a routine component of disease detection, therapy selection, newborn screening, and preventive health. Whether India can build affordability, access, and data sovereignty into this vision depends on a combination of factors.

On the affordability front, the market faces persistent challenges. Tests ranging from `20,000 to over `1 lakh are still out of reach for much of India’s population, and insurance coverage remains limited. Unless genomic tests enter national insurance schemes like Ayushman Bharat, the market risks entrenching an urban-elite skew.

Acharya of Mapmygenome notes that cost and interpretation remain barriers. “Clinical validation and cost are the biggest challenges to wider adoption,” she says.

Regulation and data governance are equally critical. Investor caution persists around India’s evolving data-privacy regime, especially with the Digital Personal Data Protection Act awaiting enforcement. Cross-border data-transfer restrictions complicate global collaborations. And while national genomic databases are expanding, they remain early-stage.

Yet, the optimism among clinicians, investors and sequencing companies is striking.

“By 2030, genomics will be embedded across India’s healthcare pathways,” says Chemmenkotil of Metropolis. Illumina sees India as a rising global genomics hub.

Hariharan of Strand believes India is evolving into an innovation hub, not just a sequencing destination. Dr Nathany sees India transforming from a user of global genomic tools to a creator.

“We envision India evolving from a user of global genomic solutions to a global leader in developing them,” he says

@neetu_csharma