EXPRESS HEALTHCARE MANAGEMENT: A recent study conducted by the EveryLife Foundation for Rare Diseases has shed light on the potential savings that can be achieved through early diagnosis of rare diseases. The study builds upon existing evidence from Project Baby Bear that supports the benefits of early screening and genetic sequencing for rare diseases.
INSIDE PRECISION MEDICINE: New research by the EveryLife Foundation for Rare Diseases has found that early rare disease diagnosis could save as much as $500,000 per patient.
WASHINGTON POST: DNA sequencing to diagnose newborns could end up saving much more money — especially if done for babies who are sick. In a study funded by the state of California called Project Baby Bear, researcher Stephen Kingsmore found that sequencing the whole genomes of 178 infants hospitalized in intensive care saved $2.5 million.
Fortune: No one wants to find themselves sick or in need of a medical diagnosis. But there are those out there who already are—and are desperately seeking answers.
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.
In 2021, the Genomic Medicine Working Group of the National Advisory Council for Human Genome Research of NHGRI identified its ten most significant peer-reviewed studies for 2021.
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.