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Dr. 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.
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