Blue Shield of California Covers Rapid Whole Genome Sequencing for Children With Rare Diseases
Blue Shield of California has become the first health plan in the United States to cover rapid and ultra-rapid Whole Genome Sequencing to help critically ill babies and children in intensive care with unexplained medical conditions receive precision care.
Researchers at Rady Children’s Institute for Genomic Medicine in San Diego have pioneered the fastest use of this advanced diagnostic technology to rapidly identify and decode the root causes of rare genetic disorders for some of the sickest infants and children hospitalized in intensive care across the country.
The Rady Children’s Institute team offers the quickest turnaround of genomic test results available nationwide, delivering a preliminary diagnosis in less than three days for medically urgent cases. The blood samples can be taken at any hospital and sent to Rady Children’s Institute for sequencing and analysis.
At a recent Healthcare Innovation summit meeting, Albert Oriol, vice president and CIO of Rady Children’s Hospital-San Diego, shared his organization’s groundbreaking journey into genomics-based care. Its Genome Center incorporates both state-of-the-art infrastructure and expertise to provide rapid Whole Genome Sequencing (rWGS) to aid in the diagnosis of children with rare genetic disease. To maximize the information that rWGS can provide, the Rady Clinical Genome Center (RCGC) works closely with the ordering physicians during the entire testing process to ensure the most timely and robust results. “At RCGC, our services do not end with a list of variants or even just a molecular diagnosis,” Oriol said. “We provide clinicians with phenotype-driven analysis targeted not only to aid in diagnosis, but to offer insight into disease-specific interventions and help guide the care of their most fragile patients.”
Whole genome sequencing scans a child’s entire genetic makeup for thousands of anomalies from a blood sample. Rady Children’s specialists also provide consultation to the medical team caring for the patient to offer targeted guidance that can enable timely and precise personalized care.
Blue Shield members with Individual and Family Plans or employer-sponsored health plans who have a critically ill child, up to age 18, hospitalized in neonatal or pediatric intensive care at any location with an undiagnosed condition may be eligible.
The nonprofit health plan also was the first insurer to cover confirmatory testing for members who received a positive Ashkenazi Jewish BRCA finding from consumer genetic-testing companies such as 23andMe, as well as prostate gene expression assays for patients with low risk prostate cancer, helping them to avoid unnecessary radiation treatment and surgical intervention.
Without medical insurance coverage, access to rapid Whole Genome Sequencing is often not readily available for many hospitalized children who could potentially benefit from this service. Families in need of this care have often had to rely upon funding provided by private philanthropy and research grants to gain access to rapid Whole Genome Sequencing and associated precision care.
