Dr. Puja Grover is a leading pediatric geneticist with extensive experience in diagnosing and managing rare genetic conditions in children. We spoke with her about how genomics is transforming the care of children with rare conditions — and what families navigating this challenging journey need to know.
How Has Genomics Changed the Diagnosis of Rare Conditions in Children?
"The transformation has been extraordinary," Dr. Grover says. "When I started my career, diagnosing a rare genetic condition often took years — multiple specialist consultations, numerous tests, and still no answer for many families. Whole exome sequencing has changed this fundamentally. We can now identify the genetic cause in 25–40% of children with unexplained conditions — often within weeks of testing."
She emphasizes that a genetic diagnosis is far more than a label. "When I can tell a family that their child's condition 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 most likely to help. It tells us what to monitor for. It allows us to counsel the family about recurrence risk. And increasingly, it opens access to targeted therapies and clinical trials that require a confirmed genetic diagnosis."
Which Children Benefit Most from Genetic Testing?
"Any child with unexplained developmental delay, intellectual disability, autism spectrum disorder, epilepsy, or multiple congenital anomalies should be offered genetic testing," Dr. Grover says. "These are the highest-yield indications — where the diagnostic rate from comprehensive genetic testing is 25–40%."
She also highlights the importance of testing in children with conditions that have known genetic causes. "For conditions like spinal muscular atrophy, Duchenne muscular dystrophy, and many metabolic disorders, genetic testing confirms the diagnosis, guides treatment, and enables family counselling. And for SMA in particular, early genetic diagnosis is critical — gene therapy given before symptoms appear produces dramatically better outcomes."
How Should Families Approach the Genetic Testing Process?
"Work with a genetic counsellor from the start," Dr. Grover advises. "Genetic testing for rare conditions can be complex — choosing the right test, interpreting results (including variants of uncertain significance), and understanding the implications for the child and family all require expert guidance. A genetic counsellor is your navigator through this process."
She also encourages families to be persistent. "If the first round of testing doesn't provide an answer, don't give up. Genetic databases are growing rapidly, and variants that were classified as uncertain significance today may be reclassified as pathogenic in the future. Reanalysis of existing data — without new testing — can sometimes provide answers years later."
What Is the Future of Rare Disease Diagnosis in India?
"I'm optimistic," Dr. Grover says. "Costs are falling, awareness is growing, and the genetic counselling workforce is expanding. The National Policy for Rare Diseases 2021 has created a framework for government support. 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."
Get Expert Genetic Testing and Counseling for Your Child
MapmyGenome offers Whole Exome Sequencing, targeted gene panels, and expert genetic counselling for children with rare and undiagnosed conditions — backed by NABL-certified labs and experienced genetic counsellors.
