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Rady lands $2 million pilot program that could bring high-end genetic diagnosis to kids on Medi-Cal

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Daily vitamin doses were all that 11-month-old Maverick Coltrin needed to end the deadly seizures that arrived shortly after his birth.

But that simple solution materialized only after quick-turnaround genetic sequencing helped doctors at Rady Children’s Hospital in San Diego find the correct diagnosis fast enough to make a difference for the rapidly-deteriorating infant.

Maverick is among a growing number of Rady patients who have benefited from the rapid sequencing and analysis capabilities of the hospital’s genomics institute.

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He was on hand with his family at the hospital Wednesday to announce Project Baby Bear. The $2 million state-funded initiative will explore bringing similar cutting-edge diagnostic capabilities to young patients covered by Medi-Cal, the health insurance program for the state’s most disadvantaged residents.

It was stories like Maverick’s, said Michael Wilkening, secretary of the California Health and Human Services Agency, that convinced the state to invest in a pilot project to explore how the service could fit into Medi-Cal, a program that covers 6 million kids statewide.

“The practical application of genomic sequencing that we’re seeing here at Rady Childrens, using it to actually save babies’ lives, is a compelling story and a very good application of very interesting technology,” Wilkening said.

The initiative, which was requested by state Assemblyman Brain Maienschein who co-chairs the California Legislative Rare Disease Caucus, will work with infants on Medi-Cal from four different cities: Fresno, Oakland, Sacramento and San Diego.

The goal is to derive genetic diagnoses for at least 100 children admitted to neonatal intensive care units (NICU) in their communities with severe but unexplained symptoms. Blood samples will be dispatched to Rady’s high-speed sequencing lab in San Diego, where the institute’s team of geneticists will use custom software to quickly look for genetic markers of disease.

The institute recently set the Guiness world record for whole-genome sequencing, and is already working with several other children’s hospitals across the nation to make gene-based diagnoses as quickly as possible.

Speed is of the essence because many children with severe seizures, metabolic disorders or other maladies often die before doctors can hit on the right combination of medications. The idea, then, is to spot those disorders caused by genetic mutations quickly by using high-powered computers and artificial intelligence to accomplish what used to take weeks in hours or days.

Dr. David Dimmock, the institute’s senior medical director, said he believes that diagnosing 100 different Medi-Cal patients will show Medi-Cal that it’s worth adding the service statewide.

“The pilot data that we expect we’re going to get in the next 18 months is going to demonstrate that it is affordable and effective for Medi-Cal to do this for every baby admitted to a level three or four NICU across the state,” Dimmock said.

The institute has already made a first foray into connecting high-speed sequencing, which costs about $20,000 per kid, to cost savings. By getting to a diagnosis more quickly, researchers have found that hospitals waste less money trying medication after medication and keeping young patients in expensive hospital beds longer. A recently-published study from the institute examined the cases of 42 infants with unexplained symptoms and estimated that early diagnosis saved between $800,000 and $2 million.

Getting Medi-Cal involved is a critical step in the overall quest to expand access to genetic sequencing for babies across the state and the nation. At present, few private health insurance companies cover the service without significant pleading from doctors. In most cases, costs are covered under clinical trial protocols or through philanthropy. Convincing Medi-Cal that sequencing is cost effective and delivers a real benefit for enough babies across the state, Dimmock said, could go a long way toward pushing private insurance companies to follow suit.

“I think it’s quite hard for a commercial insurer, or the large companies that they represent, to explain why they’re not covering something that Medi-Cal is covering,” Dimmock said.

Rady estimates that about 40,000 babies born across the United States every year with life-threatening but unexplained symptoms could benefit from rapid sequencing.

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paul.sisson@sduniontribune.com

(619) 293-1850

Twitter: @paulsisson

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