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Blue Shield of California to Cover Rady Children's Rapid Whole-Genome Sequencing Test

NEW YORK – Blue Shield of California announced Monday it will cover rapid whole-genome sequencing-based diagnostic testing from Rady Children's Institute for Genomic Medicine.

The policy will help diagnose critically ill children in intensive care with unexplained medical conditions, the insurer said in a statement. Blood samples can be taken at any hospital and sent to Rady Children's Institute, which can return a preliminary diagnosis in less than three days. Rady Children's specialists will also provide consultation and targeted guidance to the medical team caring for the patient.

"Genetic disease is a leading cause of infant death in the US and Blue Shield is paving the way in providing coverage for this rapid, molecular diagnosis that can result in life-saving treatments," Rady Children's Institute President and CEO Stephen Kingsmore said in a statement.

Founded in 2014, Rady Children's Institute has been developing rapid whole-genome sequencing for deployment in pediatric medicine. Its researchers have demonstrated improved diagnostic yield, improved outcomes, and cost savings through WGS testing. But NGS testing on the whole can sometimes miss important genomic variants.

Blue Shield noted that it pioneered confirmatory testing for members who received a "positive Ashkenazi Jewish BRCA finding" from consumer genetic testing services, and prostate gene expression assays for patients with low-risk prostate cancer.

Blue Shield members who have a critically ill child who is hospitalized in neonatal or pediatric intensive care at any location with an undiagnosed condition may be eligible to receive coverage.

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