As a member of the Select Committee on Biotechnology and Co-Chair of the Rare Disease Caucus, I’m always looking for innovative treatments that provide the greatest benefit for patients at the lowest possible cost to taxpayers.
That’s why I’m enthusiastic about Project Baby Bear, a $2 million Medi-Cal funded pilot program at several hospitals, including San Diego’s Rady Children’s Hospital, to provide rapid whole-genome sequencing (rWGS) to seriously ill newborns. To learn more about this trial program, I recently attended a hearing of the Select Committee on Biotechnology with Committee Chair Kevin Mullin, Assemblymember Todd Gloria and Senate President pro Tempore Toni Atkins at Illumina’s headquarters in La Jolla. Early results are very encouraging.
As of August 31st, Project Baby Bear has performed rapid whole-genome sequencing on 116 children. 43% received a rapid diagnosis (median turnaround time 3 days) allowing identification of the underlying genetic causes of the babies’ symptoms. Early diagnosis resulted in specific treatments and improved outcomes for the babies, allowing them to avoid more than 225 hospital days, with 8 fewer muscle, lung, liver and other biopsies, and 12 fewer invasive therapeutic procedures such as insertion of feeding or breathing tubes.
Bottom line – rWGS is faster, better and cheaper than traditional treatments. It has led to vastly improved outcomes for the babies themselves, and it saved taxpayer dollars. Cost reductions significantly exceeded the $675,000 cost of rWGS for the 42 families enrolled in the study, and resulted in an estimated savings of over $1 million.
Only a handful of states provide even partial coverage for rWGS. The early success of California’s pilot program in terms of patient outcomes and cost savings may soon result in Medi-Cal adding rWGS to its treatment portfolio.