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Washington Post: Early research study results show that genome sequencing is catching conditions not found through traditional newborn screening.
NATURE: Streamlined workflows for DNA and RNA sequencing are helping clinicians to deliver prompt, targeted care to people in days — or even hours.
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.
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.
In its daily e-briefing for December 2, 2021, the Precision Medicine Institute reviewed the availability of Medicaid coverage for rWGS in Michigan, and the various state projects spearheaded by RCIGM that helped set the stage for Medicaid coverage.
Undiagnosed genetic diseases take a serious physical and emotional toll on families. Rapid genome sequencing can provide answers and guide treatment decisions, but so far, insurance companies have been reluctant to pay. That’s beginning to change.
California Medicaid’s pilot program Project Baby Bear delivers better outcomes at lower cost via rapid whole-genome sequencing of critically ill newborns
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