The Incubator #386 - š¢ HOT TOPICS 2025 COVERAGE - Should Every NICU Patient Receive Genomic Sequencing?
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Dec 9, 2025 
Dr. Pankaj Agarwal, Division Chief of Neonatology at the University of Miami and a pioneer in genomic research, dives into the rapid advancements in neonatal genomic sequencing. He highlights how diagnostic timelines have shrunk from six months to same-day results. Agarwal advocates for universal genomic testing in NICUs, emphasizing the need to overcome barriers like cost and consent processes. The value of negative results is discussed, offering families reassurance and aiding research, while ongoing gene discoveries reveal just a fraction of linked genes.
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Genomics Went From Months To Same Day
- Genomic technology advanced from months to same-day sequencing, transforming feasibility in clinical care.
- Pankaj Agarwal says neonatology is uniquely positioned to benefit because rapid diagnosis enables timely interventions.
A Six-Month Diagnostic Sparked A Career
- Pankaj Agarwal began genomics work after a six-month diagnostic odyssey for a baby with myopathy in 2000.
- That experience drove him into lab research and gene discovery efforts.
Timely Diagnosis Enables Intervention
- Early diagnosis in neonates opens windows for actionable interventions that change management.
- Agarwal argues unknown diagnoses leave clinicians stuck on optimal care plans.