Rady Children’s Hospital in San Diego, well known for their pioneering approach to rapid Whole Genome Sequencing (rWGS) in neonatal and paediatric care, yesterday announced the launch of a new initiative called Project Baby Bear. The $2 million Medi-Cal project, which is being funded by the State of California, has been developed with the goal of providing rWGS to critically ill newborns across the state via four participating hospitals.

“We are honoured to be selected as the first California children’s hospital to use the Medi-Cal platform to deliver access to this life-changing test to children who need it, regardless of their family’s ability to pay,” said Dr Donald Kearns, President and CEO of Rady Children’s. “California is once again leading the way in improving the lives of children and families with Project Baby Bear.”

The Rady Children’s Institute for Genomic Medicine has become a symbol for effective use of next-generation sequencing in the clinical space over the last few years, as a result of the efforts of Dr Stephen Kingsmore and his team. The group has been using WGS to diagnose paediatric patients in intensive care since July 2016, and to date has sequenced the genomes of nearly 1,200 children. Over a third of these patients (34%) subsequently received a diagnosis as a result of their genomic data, and 70% of those then saw life-changing adjustments in their care.

“Here at Rady Children’s, we’ve seen that using whole genome sequencing to diagnose and guide the care of babies hospitalised with rare diseases is reducing suffering and infant mortality, decreasing hospital stays and healthcare costs,” said Dr Kingsmore, President and CEO of the Institute. “We are enormously grateful to the leadership of our elected officials in California for their willingness to support this important demonstration project. “It’s our belief that rapid whole genome sequencing should become a first-line diagnostic test and standard of care in neonatal intensive care units everywhere.”

However, until now, these efforts have been limited to clinical trials, and the testing has not been covered by health insurance providers or Medi-Cal, California’s free or low-cost coverage for children and adults with limited income. Instead, the clinical trials have been supported by research grants and philanthropic donations and this has limited the number of participants in the programme. With the launch of Project Baby Bear, it is hoped that these limitations can now be overcome.

At the launch announcement yesterday, Dr Kingsmore introduced Kara Coltrin, a mother whose son was one of the patients to receive a life-changing diagnosis as a result of rWGS. She explained how her son had suffered unrelenting seizures that threatened his life before sequencing was able to pinpoint the mutations at the root of his illness, and a different, effective treatment could be implemented.

“Genomic testing saved his life,” Ms Coltrin said. “We’re blessed to be able to share his story so that we can help other children have access and give their parents hope.”