FRONTIER technologies are fascinating. In these columns, I have tried to provide a glimpse into the worlds of artificial intelligence, quantum computing, internet of things and renewable energy. Today, we delve into the enigmas of genomics.
On September 3, 2025, a hot mic caught Vladimir Putin, Xi Jinping and Kim Jong Un musing about organ transplants, biotechnology and the possibility of living to ‘a’ young 150. Three of the world’s most powerful totalitarians are not any different from other world leaders and business tycoons when it comes to battling age.
The twin enigmas of ageing and death, however, remain, arguably, the final unconquered bastions of biological science. While we have dismantled the atom, decoded the cosmic microwave background and engineered pathogens to deliver therapeutic payloads, the programmed obsolescence of our own cellular machinery eludes a definitive, mechanistic solution. This pursuit, the deep interrogation of our biological operating system, is unfathomable without genomics.
At its foundational level, genomics is the study of the genome, an organism’s complete set of deoxyribonucleic acid (DNA) — the chemical repository of the instructions needed to develop, operate and perpetuate virtually every living organism. Its double helix comprises two anti-parallel strands, each a string of four nucleotide bases: adenine (A), thymine (T), guanine (G) and cytosine (C). The strands are complementary; A always pairs with T and C with G. The linear sequence of these billions of letters encodes the instructions for building and operating a human body.
A gene, a specific locus on DNA, carries the code for a functional product, typically a protein. Information flows from DNA to a transient messenger molecule, messenger ribonucleic acid (mRNA), through the process of transcription. This mRNA transcript then exits the nucleus and engages the ribosome, a molecular machine that translates the nucleic acid code into a specific sequence of amino acids, which fold into a 3D protein. Proteins form organs, catalyse biochemical reactions, and relay signals.
When a somatic mutation alters this sequence, an aberrant protein can be produced, disrupting homeostatic networks and potentially initiating a pathological cascade, such as neoplasia. Genomics, therefore, is the science of reading, interpreting, and now, editing this fundamental text.
The impact of this ability is already transformative and pervasive across multiple sectors. In clinical medicine, genomics has catalysed the shift from empirical, population-based protocols to personalised and predictive paradigms. Pharmacogenomics, the study of how genetic variation affects drug response, allows clinicians to pre-empt adverse reactions and choose the right drug at the right dose from the outset.
Genomic sequencing is now the definitive tool for tracking disease outbreaks. When a new pathogen emerges, decoding its genome allows scientists to understand its origins, monitor its mutations in real time and develop targeted diagnostics and vaccines with unprecedented speed.
The same logic applies to rare diseases: India bears a significant burden of rare diseases. Around one in every 20 Indians is affected by 7,000 to 8,000 diseases classified as rare. Genomic sequencing is increasingly the first-line diagnostic tool, ending diagnostic odysseys that previously lasted years.
This capability is inseparable from food security, which is inextricably linked to national security. Genomics is revolutionising agriculture by enabling the development of crops with higher yields, enhanced resistance to pests and drought and improved nutritional content, all critical factors for a stable and secure food supply in the face of climate change. Similarly, genomic analysis of soil microbes can inform more sustainable farming practices and the monitoring of biodiversity loss.
In the realm of biosecurity, genomics provides the sentinel system, allowing for the rapid characterisation of engineered pathogens in a bio-attack scenario and the subsequent design of gene-specific medical countermeasures, such as mRNA vaccines or monoclonal antibodies.
Even in the domain of criminal justice, DNA analysis through forensic genomics not only helps identify suspects with high precision but also resolves cold cases by tracing distant familial connections through public ancestry databases, a technique that led to the apprehension of the ‘Golden State Killer’ of the US.
Concurrently, the commercial translation of genomics is accelerating globally. The worldwide genomics market, estimated to be valued around $30-40 billion, is on a steep growth trajectory, and India’s market is projected to mirror this with a CAGR of 16.6%, reaching an estimated $1.86 billion by 2033.
However, this scientific and commercial momentum generates a series of profound policy and legal frictions. The most immediate challenge is the governance of the direct-to-consumer testing market, which operates in a near-regulatory vacuum. Companies can directly market single-gene, multi-gene and even exome-sequencing services to consumers without a mandated framework for analytical validity, clinical validity, or, most critically, the post-test return of results. The interpretation of a polygenic risk score for a complex disorder like type 2 diabetes or the discovery of a variant of uncertain significance requires nuanced clinical translation alongside non-directive genetic counselling.
The very nature of genomic data places it in a category distinct from other medical information, demanding a rethinking of the data protection framework. A genome is a permanent, personally identifiable blueprint that contains predictive information not only about the individual but also about their kin. The Digital Personal Data Protection Act, 2023, fails to recognise “genetic data" as a specially protected category with heightened safeguards. The Act’s “consent" framework for scientific research is philosophically mismatched with the highly sensitive, re-identifiable nature of genomic data. This creates an incongruous scenario where the country is generating vast population-scale genomic datasets through initiatives like the Genome India Project, which are managed under the normative Framework for Exchange of Data (FeED) protocols of the Biotech-PRIDE Guidelines, while the statutory law governing the privacy of this data remains generic.
The near-future of genomics lies in its convergence with AI and spatial omics. The sheer volume of data produced by a single human genome is staggering, and making sense of it is a computational grand challenge. This is where AI, through machine-learning and deep-learning algorithms trained on vast datasets, can forecast drug responses, identify synergistic drug combinations and illuminate the complex interplay between genetics, environment, and lifestyle.
Complementing this is spatial omics, which layers this molecular data onto the physical architecture of the tissue itself. By mapping the transcriptome of a tumour in its native two-dimensional space, we can visualise clonal heterogeneity, observe the immune cell infiltration at the tumour-stroma interface and understand cancer not as a monolithic mass but as a complex, evolving ecosystem. This spatial context is the missing dimension for unlocking mechanisms of disease progression that bulk-sequencing averages out.
The ultimate horizon of this science returns us to the initial, profound question of human mortality. By identifying the genomic and epigenomic determinants of extreme human longevity, we are not necessarily chasing immortality, but rather seeking a compression of morbidity, the extension of a healthspan that matches our lifespan.