At a time when India’s healthcare system is embracing the promise of precision medicine, Apollo Hospitals has crossed a landmark milestone—counseling and managing over 11,000 genomic consultations across its Genomics Institutes in twelve cities.
THE WEEK spoke to Dr Kshitija Patil, Clinical Geneticist at Apollo Hospitals, Navi Mumbai. Having started her career as a pediatrician before moving into genetics, Dr Patil has witnessed first-hand the struggles of families grappling with rare disorders and the life-changing impact of timely diagnosis and emerging therapies.
In this conversation with THE WEEK, she talks about the challenges in genetics in India, the role of prevention and therapy, and why stories of hope from gene therapy saving infants to hereditary cancer detection through family screenings are redefining the future of healthcare.
Q: You started as a pediatrician. What brought you to the field of genetics, and why do you feel it is important to focus on this area?
A: I began my career as a pediatrician 14 years ago. Over time, I encountered patients with rare genetic disorders. These cases are usually difficult because families often struggle for years to get a diagnosis and to understand that the condition is genetic. With very few experts available, I felt it was important to work in this area—to be able to diagnose rare conditions, which often feel like solving complex puzzles.
Q: What are the top three challenges in genetics in India today?
A: The first challenge is diagnosis. Since these are rare disorders, each case we see is often a first for us. Identifying the condition is a significant hurdle.
The second is prevention. Once we diagnose a condition, we can assess recurrence risks and help families through testing, even during pregnancy, to determine if the baby carries the same disorder.
The third is therapeutics. Treatments vary—some conditions can be managed with dietary changes, while others require bone marrow or organ transplants. Managing logistics, preparing patients for transplants, arranging finances, and ensuring post-transplant care are huge challenges. Another hurdle is access to orphan drugs—medications for rare disorders that are difficult to procure. At Apollo, with global collaborations, we’ve been able to make many of these available to our patients.
Q: What age groups do you most often see among your patients?
A: Genetic disorders can manifest at any age, from the prenatal stage, detected through abnormal ultrasounds or screenings, to old age. Most patients, however, are children—around 50–60%—because many genetic conditions present early in life. Yet there are also disorders, such as Huntington’s disease, that present later, in a person’s 30s, 40s, or even 50s. In such cases, the genetic error has been there since birth, but symptoms only appear later in life.
Q: Could you share a patient anecdote that really stayed with you?
A: One inspiring case was India’s first child to receive gene therapy in 2020. He was an infant diagnosed with spinal muscular atrophy, a rare genetic disorder. At that time, gene therapy was newly available worldwide. Enormous efforts were made to make it accessible for him. Without treatment, he wouldn’t have survived beyond a year. Today, he is about six years old—alive and thriving because of this therapy. It’s truly a case of life versus death.
Another example is a patient in his 60s who came with abdominal discomfort. He had already undergone two surgeries for intestinal cancer. When I probed further, we discovered that another family member had a similar history. We suspected Lynch syndrome, a hereditary cancer. Only 5–10% of cancers are hereditary, but in such cases, cascade screening of family members becomes critical. We screened his children and found they carried the same mutation. With regular surveillance—colonoscopies and blood tests—we can now catch and address any cancerous growths early. For these families, this difference is lifesaving.
Q: Share the statistics on the prevalence of such genetic disorders in India?
A: Genetic disorders have always existed—it’s just that we are diagnosing them more accurately now. Earlier, in large families, there would be multiple siblings with unexplained conditions, but records weren’t maintained. Today, with better awareness and diagnostic tools, these conditions are being identified.
However, India long lacked precise prevalence data. When the government formulated the National Rare Disease Policy in 2021, one challenge was the absence of statistics. This led to an ICMR project to document the prevalence of different rare genetic disorders. The rates vary widely by condition, but taken cumulatively, the burden is quite large.
Q: Scientifically, how much more needs to be done in terms of identification and analysis?
A: We have made progress, but a long journey lies ahead. Presently, we look at mutations in the genetic code. But we now know that even with identical genetic codes, individuals can have different disease presentations—this is where epigenetics comes in. It adds another layer of complexity. The deeper we go, the more fascinating, intricate, and challenging the field becomes—almost like a black hole that keeps pulling you in.
