GENOMEWEB: California, the nation's most populous state, recently began covering rapid diagnostic whole-genome sequencing (rWGS) for sick infants under Medicaid. The decision, in theory, should make the test more widely available, leading to faster diagnoses, better medical decisions, and lower healthcare costs in many cases.
PRECISION MEDICINE PODCAST: Dr. Kingsmore joins the Precision Medicine Podcast to discuss the extraordinary role whole-genome sequencing is playing in prolonging and improving the life of critically ill newborns.
Ten hospitals in the Sanford Children's Genomic Medicine Consortium are participating in genome sequencing research of patients who have primary immune deficiency diseases (PIDD) or primary immune regulatory disorders (PIRD).
Rapid whole genome sequencing will become more useful, augmented by EHR data, the use of the cloud and comparisons with large databases, says Stephen Kingsmore, MD.
Babies with Fitz's condition, commonly known as "bubble boy disease," rarely survive to toddlerhood. He became one of the first babies anywhere to get a specific diagnosis within days of birth and an experimental therapy several months later that appears to have worked.
Project Baby Deer is allowing Bronson Children's Hospital to diagnose genetic disorders in as fast as 30 hours; something that used to take nearly 30 days.
While it is safe to say that RCIGM has sufficiently proven its ability to identify the genetic variants driving many of these life-threatening rare conditions, it is now on a mission to bring its method of diagnosing sick babies to health systems across the country.