WIKIMEDIA, BRIAN HALLChildren born with congenital abnormalities have a tough go at the beginnings of their lives. They can spend days, weeks, or months in neonatal intensive care units (NICU), hooked up to ventilators, fed through tubes, and regularly prodded and monitored to collect biological data. Some never make it out of the hospital. The ones who do can be saddled with poorly diagnosed health problems for the rest of their lives.
Researchers at Rady Children’s Hospital in San Diego are finding that rapidly sequencing the whole genomes of such babies may be key to diagnosing their conditions quicker and improving their health outcomes. Shimul Chowdhury, director of the clinical laboratory at the Rady Children’s Institute for Genomic Medicine, presented data today (October 19) on six case studies of NICU infants at the annual meeting of the American Society of Human Genetics in Orlando.
Chowdhury and his colleagues found that for all six infants, who suffered from a variety of often exceedingly rare genetic disorders, sequencing their whole genomes led to a reduction in the length of stay in the NICU by 124 days compared to control cases and reports from the scientific literature, in which standard ...
