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.
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
Rady Children’s, Project Baby Bear provided diagnoses for 76 babies (43%) of those tested with rWGS. The testing led to a change in the management of 55 babies (31%) that resulted in fewer hospital days, fewer procedures or new therapies.
A pilot project aimed at extending rapid DNA-based diagnosis to infants with severe, but unexplained symptoms found answers for 76 different families across five California hospitals, according to a new report to be released by Rady Children’s Hospital today.
When babies become intensely ill, it can be difficult to know what has gone wrong. But the answer, quite often, is hidden somewhere in their genes. Whole-genome sequencing — in which scientists can read the nearly 3 billion chemical letters in DNA — can help turn up that answer. And scientists, increasingly, are laying out […]