A Healthier Start: Making A Case for Genomic Newborn Screening in India
The genomic newborn screening initiative is gaining momentum across the world, with large-scale programmes now under way in the U.S., the UK, Europe, and Australia. At least 1.7 million babies in India are born every year with birth defects, many of which are due to genetic conditions. Almost 1 in 250 children has a treatable genetic disease. Yet, genetic screening at birth almost does not exist in the public healthcare system in India
The National Health Service (NHS) in the UK has announced plans to test the DNA of every newborn baby over the next decade. As a part of a broader 10-year strategy to transform healthcare from being reactive to preventive, the programme will offer whole genome sequencing (WGS) at birth, aiming to detect hundreds of serious genetic conditions long before symptoms appear. The initiative is built on the early experiences gained from an ongoing pilot initiated in 2024 — the Generation Study — in which whole genome sequencing is being offered to 1,00,000 babies across England for early detection of rare genetic conditions that are treatable or manageable if detected in time. The latest initiative is an ambitious shift from diagnosing diseases to predicting and managing them pre-emptively.
This announcement comes close on the heels of a number of pilot genomic newborn screening programmes currently under way in different parts of the world, with consistent observations on the diagnostic yield and ability to diagnose diseases which are not yet identifiable using traditional approaches. While many of the initial programmes are research programmes, it is also noteworthy that the learnings are now rapidly being adopted by governments to design public health programmes. It was also just last month that Governor of Florida Ron DeSantis put the Sunshine Genetics Act (HB907) into law. The genomic newborn screening (gNBS) initiative is gaining momentum across the world, with large-scale programmes now under way in the U.S., the UK, Europe, and Australia. The GUARDIAN study in the U.S. has enrolled over 4,000 newborns to screen for more than 400 genetic conditions with a diagnostic yield of over 3%. These efforts are guided by population-specific data and healthcare systems prepared to act on the findings.
With over 25 million births each year, India is home to the world’s largest newborn population. It is not therefore surprising that the burden of congenital disorders in India is staggering. It has been estimated that at least 1.7 million babies in India are born every year with birth defects due to genetic conditions/diseases. Importantly, almost 1 in 250 children has a treatable genetic disease, and the number of treatable conditions has been rapidly increasing over the last decade. Yet, genetic screening at birth almost does not exist in the public healthcare system in India.
Stuck in the past
The heel prick test, a simple blood test performed in the first days of life, has long been a global standard for newborn screening. These tests rely on a handful of biomarkers, and often the inclusion of a disease is limited by the logistic and technical challenges in performing multiple tests in a limiting sample. In India, this test too is offered inconsistently, mostly in private settings with the exception of a few States who have shown promise. Scaling it to include more tests to factor in prevalent and treatable diseases in India or to expand to the entire population comes with logistic and technical barriers.
Furthermore, the test is typically limited to detecting just a few conditions, like phenylketonuria, congenital hypothyroidism or G6PD deficiency, while many of the much prevalent and treatable genetic diseases such as Wilson Disease or Primary Immunodeficiency is not covered due to technical and logistics issues. As a result, the majority of newborns in India are not screened for even the most basic genetic disorders, let alone the broader range of rare but treatable conditions that genomic screening can detect.
Missed window for effective intervention
In the absence of early screening, genetic conditions often go unrecognised until they present with visible symptoms, such as developmental delay, unexplained seizures, feeding difficulties, or failure to thrive. These symptoms can start months after birth, and parents are often left navigating a maze of consultations and tests in search of a diagnosis. For many, the delay in diagnosis means missed windows for effective intervention. By the time the underlying condition is identified, the child may have already suffered irreversible damage.
What genomic newborn screening (gNBS) offers is the multi-fold. First, it provides a chance to intervene before the disease sets in. Second, it is flexible to include more diseases which are increasingly becoming treatable. Most importantly, it can provide insights into treating the conditions by understanding the genetic makeup of the neonate and optimising the dosage based on pharmacogenetics. A single sequencing test at birth could detect hundreds of actionable conditions that have established management strategies, which can include dietary modifications, enzyme replacement therapy, and even preventive medication. It could replace years of diagnostic uncertainty with early clarity, allowing clinicians and families to plan ahead.
With its vast genetic diversity, high birth rates and constrained public health infrastructure, the key question for India is different. What conditions are both treatable and realistically actionable here?
The GENESIS initiative
To screen newborns meaningfully, we need to first know which gene-disease pairs are relevant to our population, which therapies are accessible, and how early intervention can be delivered in the Indian context. To address this, the GENESIS initiative (Genomic Evidence for Newborn Screening in India) was launched as a national collaborative effort. It aims to bring together diverse expertise in clinical medicine, including paediatricians, neonatologists, genetic counsellors, and researchers among others to build the scientific and clinical foundation for genomic newborn screening in India. The idea is to generate local data, identifying actionable conditions specific to Indian populations, and guiding implementation frameworks that are ethical, equitable, and feasible. GENESIS is about enabling early, genome-informed diagnosis not by borrowing global models, but by designing one that works for India.
Increasingly feasible genomic newborn screening
As sequencing costs continue to become affordable and as more insights on the genetic underpinning of diseases become available, clubbed with automated analysis tools, genomic newborn screening is becoming increasingly feasible if not inevitable, even in public health settings. For genomic newborn screening (gNBS), timing is crucial. The opportunity to prevent harm has a narrow window of opportunity, mostly in the first few weeks of life. That’s what makes newborn screening uniquely powerful. It reaches children before symptoms appear, before complications set in, and before families begin a long and painful diagnostic journey. And the impact goes beyond the individual child: early diagnosis can inform care for siblings, alert extended family members, and reduce the long-term burden on healthcare systems. Furthermore, genomic data generated at birth can be revisited later to understand drug response, risk of adult-onset conditions, or compatibility for organ transplants. The genome is a lifelong health resource, if we choose to use it that way.
India has the tools. High-throughput sequencing facilities are now available across multiple centres besides the large and robust bioinformatics expertise. Efforts like the GENESIS initiative are building a gene list tailored to the Indian population, focusing on conditions that are prevalent, actionable, and treatable. But building a national programme for genomic newborn screening requires a system that incorporates trained professionals to explain results to families, clear ethical guidelines for consent, protections for data privacy, and a public health framework that ensures equitable access. It also requires community awareness and public trust, where parents must understand what is being tested, why it matters, and what happens next.
While the cost of genomic screening is currently not affordable by many, it is noteworthy that many parents spend much more than the current price of a genomic newborn screening in programmes which offer much lesser yield — cord blood banking which may not have as much of healthcare utility, or birthing procedures which may not have as much scientific basis. Genomic testing has consistently become affordable over the last two decades, and this continued push would enable it to become affordable to many more who currently cannot. We sincerely hope this would enable genomic screening to be quickly embedded into the public health system and make a real difference.
The UK’s announcement makes it clear that genome sequencing at birth is no longer a distant prospect. It is feasible, actionable, and already underway. India can, and should, take the next step to lead in designing a genomic screening model that is ethical, equitable, and tailored to its people. Our healthcare system is already shifting toward prevention and personalisation, and genomic newborn screening fits well within that vision. It aligns with the goals of early diagnosis, universal health coverage, and data-driven care. More importantly, it allows leapfrog into broader testing for an ever-increasing number of diseases, which are treatable, as well as scalable to the entire population.
No newborn should have to endure a lifelong condition that could have been identified and treated at birth. The tools are now available. The task ahead is to ensure that genomic newborn screening is implemented swiftly, responsibly, and for all. It is not a distant future where genomic newborn screening is a right of every child, rather than a privilege.
