Pediatric genomic sequencing improves patient care

2020 06 18 16 40 8700 2020 06 18 Baby Bear 400

In a $2 million Medi-Cal pilot program, Rady Children's Hospital in San Diego has shown that genomic sequencing in babies with rare, genetically defined diseases produced better outcomes while also decreasing care costs.

Project Baby Bear included 178 patients from the following five children's hospitals across California:

  • University of California, San Francisco Benioff Children's Hospital, Oakland
  • University of California Davis Children's Hospital, Sacramento
  • Valley Children's Hospital, Madera
  • Children's Hospital of Orange County, Orange
  • Rady Children's Hospital, San Diego

The project used a rapid whole-genome sequencing test to analyze the infants' genetic code. The test provided doctors and the children's families with diagnostic information that helped them to make the best care and treatment decisions, enabling a diagnosis in 43% of the 178 children and changing the medical care plan in 31%.

It also reduced healthcare spending by $2.5 million due to earlier patient discharge and fewer procedures needed for diagnosis. Furthermore, it helped avoid 11 major surgeries and 16 diagnostic tests such as muscle and liver biopsies, which must be done under general anesthesia, Rady Children's reported.

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