When we think of welcoming a newborn baby, we expect them to be born healthy, happy and ready to live a full life. Unfortunately, some infants are born with critical illnesses that require serious medical attention as soon as their lives begin. Scientists and medical professionals have discovered solutions to diagnosing and properly treating rare diseases in ill newborns through rapid whole genome sequencing. This innovative testing can bring significantly different outcomes to families searching for answers, however, it is not currently available to every infant who needs it. Few health insurance companies offer rapid whole genome sequencing as a covered benefit and other access is limited to clinical trials.
In 2018, I was inspired by these stories to partner with Rady Children’s Hospital – San Diego to secure $2 million in state funding to pilot Project Baby Bear, a clinical study that allowed doctors at five hospitals to perform genome sequencing on critically ill infants enrolled in Medi-Cal. Genome sequencing looks at the genetic makeup of an ill newborn and their parents to determine deviations that could be the root of rare diseases and dire health problems. Project Baby Bear was able to prove that rapid whole genome sequencing can significantly change the outcome for families searching for answers to their newborn’s illness. Throughout sequencing 178 critically ill babies, Project Baby Bear demonstrated that:
- An average of 513 fewer days were spent in the hospital
- 11 fewer major surgeries were performed
- An estimated $2.5 million in healthcare resources were saved
Baby Nathan’s Story
I am proud to introduce my bill AB 114, The Rare Disease Sequencing for Critically Ill Infants Act. This bill will close the disparity in access to rapid whole genome sequencing by qualifying testing as a Medi-Cal covered benefit. Many newborns covered by Medi-Cal could benefit from access to these life-saving opportunities and would have the chance to find answers to their conditions much sooner in life. My legislation would also save the state a tremendous amount of money that would have otherwise been spent on unnecessary exploratory and diagnostic procedures, or lifelong treatment that only addresses symptoms of the disease rather than the cause.
For more information, please contact Shanna Ezzell at Shanna.Ezzell@asm.ca.gov or (916) 319-2077.
“Innovative testing detects rare diseases in critically ill infants” by Assemblymember Brian Maienschein
AB 114 Background
Maienschein Hosts Rare Disease Sequencing for Critically Ill Infants Act Press Conference
AB114 Take Action
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