[ad_1]
Maverick Coltrin, 11 months old, needed daily doses of vitamins to end the deadly seizures shortly after birth.
But this simple solution only came to fruition after rapid genetic sequencing helped doctors at Rady Children's Hospital in San Diego find the right diagnosis fast enough to make a difference for the newborn who was rapidly deteriorating. .
Maverick is part of a growing number of Rady patients who have benefited from the rapid sequencing and analysis capabilities of the hospital's Genomics Institute.
He was with his family at the hospital on Wednesday to announce the Baby Bear project. The $ 2 million state-funded initiative will explore the possibility of offering similar diagnostic capabilities to young patients covered by Medi-Cal, the health insurance program for the most disadvantaged residents of Medi-Cal. the state.
These are stories like Maverick's, said Michael Wilkening, secretary of the California Health and Social Services Agency, who convinced the state to invest in a pilot project to integrate Medi-Cal at $ 6 million. children. .
"The practical application of genomic sequencing that we see here at Rady Childrens, using it to save babies' lives, is a compelling story and a very good application of a very interesting technology," said Wilkening.
The initiative, which was requested by MP Brain Maienschein, who co-chairs the California Rare Disease Caucus, will work with Medi-Cal infants from four different cities: Fresno, Oakland, Sacramento and San Diego.
The goal is to obtain genetic diagnoses for at least 100 children admitted to neonatal intensive care units (NICUs) in their communities with severe but unexplained symptoms. Blood samples will be sent to Rady's Rapid Sequencing Lab in San Diego, where the Institute's geneticist team will use custom software to quickly search for genetic markers of the disease.
The institute recently set the world record for whole genome sequencing and is already working with several other children's hospitals across the country to make gene-based diagnoses as quickly as possible.
Speed is essential because many children with severe seizures, metabolic disorders, or other illnesses often die before doctors can use the right combination of medications. The idea is to quickly identify the disorders caused by genetic mutations by using powerful computers and artificial intelligence to accomplish what took weeks or days.
Dr. David Dimmock, chief medical director of the Institute, estimates that the diagnosis of 100 different Medi-Cal patients will show Medi-Cal that it is worth adding this service to the statewide.
"The pilot data we expect to obtain in the next 18 months will demonstrate that Medi-Cal is affordable and effective for every baby admitted to a level three or four NICU across the state," says Dimmock.
The institute has already made a first foray into the high-speed sequencing connection, which costs about $ 20,000 per child, to save money. By getting a diagnosis faster, the researchers found that hospitals were wasting less money trying drugs after medication and keeping young patients in more expensive hospital beds. A study recently published by the institute examined cases of 42 infants with unexplained symptoms and estimated that early diagnosis could save between $ 800,000 and $ 2 million.
Involving Medi-Cal is a crucial step in the global quest to expand access to genetic sequencing for infants throughout the state and country. At present, few private health insurance companies cover the service without doctors asking for significant pleas. In most cases, the costs are covered by clinical trial protocols or by philanthropy. According to Dimmock, convincing Medi-Cal that sequencing is cost-effective and represents a real benefit to enough babies across the state could help encourage private insurance companies to do the same.
"I think it's quite difficult for a commercial insurer, or for the large companies they represent, to explain why they do not cover something that Medi-Cal covers," Dimmock said. .
Rady estimates that about 40,000 babies born in the United States each year with potentially fatal but unexplained symptoms could benefit from rapid sequencing.
(619) 293-1850
Twitter: @paulsisson
[ad_2]
Source link
