#386 - 🟢 HOT TOPICS 2025 COVERAGE - Should Every NICU Patient Receive Genomic Sequencing?

Send us Fan MailDr. Pankaj Agrawal, Division Chief of Neonatology at University of Miami, discusses rapid genomic advances—from six-month diagnostic timelines in 2000 to same-day sequencing today. While current practice targets phenotype-based testing for unexplained conditions or dysmorphic features, Agrawal advocates moving toward universal NICU sequencing to identify previously unrecognized conditions. Key barriers include administrative buy-in, cost concerns, consent processes, and result disclosure challenges. Even negative results provide value—offering families reassurance and contributing to research databases. With only 5,000 of 20,000 genes linked to human disease, ongoing gene discovery work continues. Agrawal emphasizes the NICU as ideal for genomic implementation given high genetic disease prevalence and intervention opportunities. Support the showAs always, feel free to send us questions, comments, or suggestions to our email: [email protected]. You can also contact the show through Instagram or Twitter, @nicupodcast. Or contact Ben and Daphna directly via their Twitter profiles: @drnicu and @doctordaphnamd. The papers discussed in today's episode are listed and timestamped on the webpage linked below.Enjoy!