SACRAMENTO – Assemblymember Brian Maienschein’s legislation to expand access to rapid whole genome sequencing for Medi-Cal babies suffering from rare diseases has received funding in the 2021-2022 state budget.
Assembly Bill 114, the Rare Disease Sequencing for Critically Ill Infants Act, has been awarded $3M annually for the purpose of providing access to this innovative testing to critically ill newborns diagnosed with rare diseases.
AB 114 was inspired by the success of Project Baby Bear, a pilot study that allowed doctors at five children’s hospitals to provide rapid whole genome sequencing to help diagnose and personalize treatment for ill babies enrolled in Medi-Cal. Project Baby Bear was led by Rady Children’s Hospital – San Diego.
Using this rapid form of genome sequencing, Project Baby Bear returned results within a few days, as opposed to the weeks it takes for traditional genetic testing to provide answers. Now, technology has allowed these results to be returned within hours. Rapid whole genome sequencing reads a child’s entire genetic code to pinpoint the cause of their condition. With this information, doctors can provide targeted, personalized care that results in fewer invasive procedures, shorter hospital stays, and significant healthcare cost savings.
Results for the 178 babies sequenced in Project Baby Bear resulted in 513 fewer days in the hospital, 11 fewer major surgeries and an estimated $2.5 million in healthcare savings.
“This testing can be life-changing for many, yet the disparity in access prevents those who need this testing the most from receiving it,” said Assemblymember Maienschein.
Currently, rapid whole genome sequencing is only covered by a few private health insurance companies. AB 114 expands access to this sequencing to critically ill newborns covered by Medi-Cal.
“When searching for answers to complicated health questions, having access to the best and fastest technology is crucial, especially for critically ill newborns and children,” says Patrick Frias, MD, president and CEO of Rady Children’s. “Our goal is that every child in the state who needs rapid whole genome sequencing is able to access it.”
“It’s very rare to be able to use the most advanced, innovative medical technology to both improve a child’s life and save money, yet Project Baby Bear proves it’s possible,” said Stephen Kingsmore, MD, DSc, president and CEO of Rady Children’s Institute for Genomic Medicine. “We’re grateful for Assemblyman Maienschein’s leadership in advancing this legislation that seeks to offer answers and hope for families with children suffering from unexplained rare genetic conditions.”
“I am very proud that my bill expands access to this medical advancement that will undoubtedly help families of infants find answers to their diagnoses and options for optimal care much quicker,” said Maienschein. “Not only this, but my bill will ultimately save the state a tremendous amount in fiscal and medical resources by accelerating the diagnosis and care of these infants.”