Blue Shield of California to cover whole genome sequencing of critically-ill children

By | March 10, 2020

Blue Shield of California has become among the first health insurers in the nation to cover the cost of whole genome sequencing to help critically-ill babies and children in intensive care who have an unexplained medical condition.

Blue Shield of California will cover rapid and ultra-rapid whole genome sequencing done by the San Diego-based Rady Children’s Institute for Genomic Medicine.

Rady Children’s Institute for Genomic Medicine rapidly identifies and decodes the root causes of rare genetic disorders. It delivers a preliminary diagnosis for medically urgent cases in less than three days, Blue Cross of California said.

The blood samples can be taken at any hospital and sent to Rady Children’s Institute for sequencing and analysis. Rady Children’s specialists also provide consultation to the medical team caring for the patient.

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.


Genetic disease is a leading cause of infant death in the U.S., and molecular diagnosis can result in life-saving treatment, according to Dr. Stephen Kingsmore, president and CEO of the Institute.

Using a blood sample, whole genome sequencing scans a child’s entire genetic makeup for thousands of anomalies.

Without medical insurance coverage, access to rapid whole genome sequencing is often not readily available.  Families have often had to rely upon funding provided by private philanthropy and research grants. 


In many cases, health insurance plans will cover the costs of genetic testing, when it is recommended by an individual’s primary care physician. However, some people may choose not to use their insurance to pay for testing because the results of a genetic test can affect a person’s insurance coverage, according to the National Institutes of Health.


“We know that uncertainty and long testing wait times can create tremendous risks for children in intensive care, and anxiety for their families, all the while creating more challenges for physicians and specialists,” said Dr. Terry Gilliland, executive vice president of Healthcare Quality and Affordability at Blue Shield of California.

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