Pediatric genomics is transforming how we diagnose and manage childhood conditions — from rare genetic disorders to common conditions with genetic components. We spoke with Dr. P. Rajesh Khanna, a leading pediatric specialist, about how genomic testing is changing the landscape of pediatric care in India.
How Has Genomic Testing Changed Pediatric Diagnosis?
"The most significant change is in the diagnosis of rare diseases," says Dr. Khanna. "Before whole exome sequencing became accessible, many children with rare genetic conditions spent years — sometimes their entire childhood — on a diagnostic odyssey. Parents would see specialist after specialist, undergo test after test, without ever getting an answer. Now, a single comprehensive genetic test can often provide a diagnosis in weeks."
The impact of a genetic diagnosis goes far beyond a label. It guides treatment decisions, predicts disease progression, enables family counselling, and — increasingly — opens access to targeted therapies and clinical trials that are only available to patients with confirmed genetic diagnoses.
Which Pediatric Conditions Benefit Most from Genomic Testing?
"Developmental delay and intellectual disability are among the highest-yield indications," Dr. Khanna explains. "Chromosomal microarray and whole exome sequencing together have a diagnostic yield of 30–40% in children with unexplained developmental delay — which is remarkable for a single test."
Other high-yield indications include multiple congenital anomalies, epilepsy (particularly early-onset or drug-resistant epilepsy), autism spectrum disorder, metabolic disorders, and suspected genetic syndromes. "For any child where the clinical picture doesn't fit a clear diagnosis, genomic testing should be considered early — not as a last resort," he emphasizes.
What About Newborn Screening?
"Newborn screening is one of the most impactful public health interventions we have," Dr. Khanna says. "For conditions like congenital hypothyroidism, PKU, and spinal muscular atrophy, early identification and treatment can mean the difference between a child developing normally and suffering irreversible disability. The tragedy is that universal newborn screening is not yet available across India."
He advocates for expanded newborn screening panels that include conditions treatable with gene therapy — particularly spinal muscular atrophy, where treatment in the pre-symptomatic period produces dramatically better outcomes than treatment after symptoms appear.
How Should Parents Approach Genetic Testing for Their Children?
"The most important thing is to work with a genetic counsellor," Dr. Khanna advises. "Genetic test results can be complex and emotionally challenging. A genetic counsellor helps families understand what the results mean, what they don't mean, and what the implications are for the child and other family members. Testing without counselling can cause unnecessary anxiety or false reassurance."
He also emphasizes the importance of testing in the right clinical context. "Genetic testing is most valuable when it's guided by a clinical question. Random testing without a clear indication can generate variants of uncertain significance that create more confusion than clarity."
What Does the Future Hold for Pediatric Genomics in India?
"The future is very exciting," Dr. Khanna says. "Costs are falling, databases are growing, and our ability to interpret genetic variants is improving rapidly. I expect whole genome sequencing to become the standard first-line test for unexplained pediatric conditions within the next decade. And as gene therapies continue to advance, having a precise genetic diagnosis will become even more critical — because many of these therapies are only available to patients with specific confirmed mutations."
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