The Centers for Disease Control and Prevention (CDC) recapped 2021 with a reflection on emerging advancements in genomics and precision medicine that have made great progress on population health. Among the 10 notable developments highlighted for having significant impact in the field was Valley Children’s participation in a pilot program that implemented rapid whole genome sequencing (rWGS) which resulted in improved clinical outcomes and reduced costs of treatment in intensive care units.
From November 2018 to May 2020, Valley Children’s and four other children’s hospitals (Rady Children’s, Oakland Children’s, Children’s Hospital of Colorado and UC Davis) participated in a collaboration called Project Baby Bear – a $2 million Medi-Cal pilot program through Rady Children’s Genomic Institute that provided rWGS for critically ill infants and children with undiagnosed diseases. Of 184 infants enrolled, 40% received a diagnosis by rWGS that explained their admission in a median time of three days, and for 32%, rWGS led to changes in medical care. Aside from the better outcomes produced by rWGS, the organizations participating in Project Baby Bear reported a cost savings in overall healthcare spending of $2.5 million – due to fewer hospital days and diagnostic tests and surgeries avoided due to having an accurate diagnosis.
As a result of this work, California passed a bill (AB133) that will provide rWGS coverage for children with Medi-Cal under 1 year of age who are admitted to the neonatal intensive care unit (NICU) or pediatric intensive care unit (PICU). The State of Michigan has followed, having passed their own bill related to coverage for rWGS.
“rWGS has changed the culture of genetic testing by giving clinicians a powerful diagnostic tool which has recently become more cost accessible and offered by multiple commercial labs,” says Valley Children’s Lead Genetic Counselor Jason Carmichael. “Genetic makeup tells us so much about a patient’s condition and how we can more precisely provide care. This is advancement will change medicine for decades to come.”
This past December, Valley Children’s Genetic Medicine and Metabolism team expanded their services with the addition of the Precision Medicine Initiative – medical care that is customized for specific groups of patients by using genetic or molecular profiling to optimize efficiency or therapeutic benefit. rWGS is just one innovative method offered at Valley Children’s. Additional services include pharmacogenetic testing to help doctors prescribe the best medication based on a patient’s genetics, continuity of care between prenatal and neonatal patient management, utilization management of genetic testing to maximize its use within our healthcare system and many more innovations. Our team is certified as a California Children’s Services (CCS) Metabolic Treatment Center for the California Newborn Screening Program and partner with experts across the country in order to provide the best care for some of the most complex and rare conditions.