Genetic diseases are the leading cause of death for infants in North America, affecting an estimated 4 percent of newborns. In MIT Technology Review, Rady Children’s Hospital in San Diego showcases the “new wave of precision medicine” that uses genetics to determine life saving drug options for newborns.
The article titled "Fast Genome Tests Are Diagnosing Some of the Sickest Babies in Time to Save Them" by Emily Mullin, published in MIT Technology Review, explores the transformative impact of rapid whole-genome sequencing (WGS) on the diagnosis and treatment of critically ill infants. Traditionally, diagnosing rare genetic disorders in newborns could take weeks or months, during which time the infants might not receive the appropriate treatment. However, advancements in sequencing technology have significantly reduced this time to just days, enabling doctors to diagnose and begin treating these babies much faster.
The article highlights the story of Sebastian Martinez, a newborn who experienced severe seizures shortly after birth. Thanks to a quick genome test, doctors were able to identify the genetic mutation responsible for his condition within 48 hours, allowing them to start a specific treatment that saved his life. This case exemplifies how rapid WGS can be a game-changer in neonatal care, providing life-saving diagnoses when time is critical.
The article also discusses the broader implications of this technology, including the challenges of integrating it into standard clinical practice, the costs involved, and the potential to reduce the emotional and financial burden on families by providing faster diagnoses. The author emphasizes that while the technology is not yet universally accessible, it is poised to revolutionize the way we approach the care of the sickest newborns, offering hope where previously there was uncertainty.
You can read the full article here:
https://www.technologyreview.com/s/610380/fast-genome-tests-are-diagnosing-some-of-the-sickest-babies-in-time-to-save-them/
