New DNA sequencing technologies have evolved rapidly over the last decade. The cost for whole genome sequencing has dropped from thousands to hundreds of dollars. What used to take months to accomplish requiring a tablespoon of blood is now possible to process in a few days (from the extraction of DNA out of just a few drops of blood to an interpreted report) making NGS a relevant clinical tool for the Neonatologist to diagnose and treat sick newborns.
We aim to more rapidly provide accurate diagnoses to parents and shorten the length of diagnostic odysseys, length of hospital stays, and time to initiation of the most appropriate therapies using these genomic technologies. Our program will allow our clinicians to access state-of-the-art diagnostic test methods and to consider genetic etiologies for difficult to identify newborn diseases. Using appropriate genomic technologies by highly trained staff, our multidisciplinary team aims to advance clinical care standards, improve systems that coordinate the transfer of maternal and fetal genomic information from our BWH maternal fetal medicine colleagues to our Pediatric staff, and eventually generate the genomic information via core facilities already in place within BWH.
Our Newborn Genomics Program investigators have focused on implementation advanced clinical practices. Some of these projects are as follows:
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