Dr. Pritesh Nagar is a leading pediatrician with deep expertise in developmental pediatrics and the emerging role of genomics in pediatric care. We spoke with him about newborn screening, autism, and how genetic testing is transforming the way we care for children.
How Is Genomics Changing Pediatric Practice?
"Genomics is fundamentally changing how we approach diagnosis in pediatrics," Dr. Nagar explains. "Before whole exome sequencing became accessible, many children with complex conditions spent years without a diagnosis. Now, a single comprehensive genetic test can often provide answers in weeks — answers that change management, guide prognosis, and give families the information they need to make informed decisions."
He emphasizes that a genetic diagnosis is not just a label. "When I can tell a family that their child's developmental delay is caused by a specific genetic variant, it changes everything. It explains why the child is the way they are. It guides the specific therapies and interventions most likely to help. It tells us what to monitor for. And it allows us to counsel the family about recurrence risk and family planning."
What Is the Current State of Newborn Screening in India?
"Newborn screening in India is improving but remains inconsistent," Dr. Nagar says. "Some states have robust programs; others have very limited screening. The conditions screened for vary widely. And even where screening is available, follow-up for positive results is often inadequate."
He advocates strongly for expanded newborn screening. "For conditions like spinal muscular atrophy, the window for effective treatment is the pre-symptomatic period — before motor neurons are lost. Gene therapy given in the first weeks of life produces dramatically better outcomes than treatment given after symptoms appear. Without newborn screening, we miss this window entirely."
He also highlights congenital hypothyroidism as a success story. "Where newborn screening for congenital hypothyroidism is implemented, we've essentially eliminated the intellectual disability that used to result from this condition. It's one of the most impactful public health interventions in pediatrics. We need to expand this model to other treatable conditions."
How Do You Approach Autism in Your Practice?
"Autism is a clinical diagnosis — based on behavior and development, not genetics," Dr. Nagar clarifies. "But genetic testing plays an important role in identifying underlying causes in a significant proportion of autistic children."
He recommends genetic testing for all children with autism, particularly those with intellectual disability, dysmorphic features, or a family history of autism or other neurodevelopmental conditions. "Chromosomal microarray and whole exome sequencing together identify a genetic cause in approximately 20–25% of autistic children. That's a significant proportion — and the diagnosis has important implications for medical management and family counselling."
What Advice Do You Have for Parents of Children with Developmental Concerns?
"Don't wait," Dr. Nagar says emphatically. "If you have concerns about your child's development — speech, motor skills, social interaction, behavior — seek evaluation early. Early intervention is most effective during the critical developmental windows of the first 3–5 years. Waiting for a child to 'catch up' on their own is rarely the right approach."
He also encourages parents to ask about genetic testing. "If your child has unexplained developmental delay, intellectual disability, autism, or multiple congenital anomalies, ask your pediatrician about genetic testing. A genetic diagnosis can transform the care your child receives."
Get Expert Genetic Testing and Counseling for Your Child
MapmyGenome offers Whole Exome Sequencing, chromosomal microarray, and expert genetic counselling for children with developmental concerns, autism, and suspected genetic conditions — backed by NABL-certified labs and experienced genetic counsellors.
