Soon, couriers will drive infant blood samples 90 miles south down Interstate 5 from Orange County to San Diego for high-speed genetic sequencing and analysis at the Rady Childrens Institute for Genomic Medicine. <\/p>\n
The organization, which recently built its own hot rod genetics lab that can do full DNA work-ups in days instead of weeks, announced this week that it has made a pact with Childrens Hospital of Orange County, offering quick-turnaround service for infants in that facilitys intensive care units who need the speed. <\/p>\n
Though most young patients dont need results in days, a break-neck pace can benefit those with unexplained, life-threatening and progressive symptoms which force physicians to make treatment decisions very quickly. <\/p>\n
In these situations, doctors sometimes must choose one therapy or another without enough time to fully understand what, exactly, is causing deadly medical problems ranging from seizures to cardiac arrest. <\/p>\n
Genetic analysis can spot DNA mutations and help doctors make more informed choices about which procedures are most likely to work and also allow them to test for multiple possible genetic diseases with a single test rather than several, putting less strain on babies already struggling to survive after birth. <\/p>\n
Rady began using its own sequencing machines from the San Diego-based company Illumina, stationed in an office building just across the street from the hospital, last year for the time-sensitive minority of patients who have immediate genetic information needs. <\/p>\n
Out of the gate, rapid analysis clarified a set of confusing symptoms and ended up canceling a surgery for a newborn because the procedure turned out to be unnecessary, hospitals officials said. <\/p>\n
The Rady Childrens institute said this week that it has now sequenced 100 patients enrolled in its research studies. Forty percent have received a genomic diagnosis of their disease while 80 percent have had some sort of change in their plan of care as a result of undergoing sequencing. <\/p>\n
About one in 20 is a life saved, and wed like to save as many as we can, said Dr. Stephen Kingsmore, director of the institute. <\/p>\n
CHOC is just the start, he added. He expects to help 10 childrens hospitals across the nation start offering high-speed sequencing to their patients by the end of June 2018. And Kingsmore hopes to go far beyond that initial goal. <\/p>\n
Ideally, he said in a previous interview, every hospital should have access to rapid sequencing and analysis. Though a request for a $100 million MacArthur Grant that would have jump started that larger ambition did not come through, plans are still underway to move forward as quickly as possible with another hospital in the Midwest expected to announce a collaboration this week or next. <\/p>\n
Cost is one of the biggest obstacles for pediatric sequencing which must include the patient, both parents and sometimes siblings. Only by comparing a childs genetic sequence to their parents can new mutations be spotted quickly. A full analysis can cost $20,000 per family in rapid-turnaround situations. <\/p>\n
Most families dont have that kind of cash on hand, and it can take weeks or months to convince health insurance companies to cover the expense, a time lag that is too long when a babys condition is deteriorating rapidly. <\/p>\n
Rady is able to temporarily circumvent this limitation by getting seed funding from the South Dakota-based Sanford Health Foundation, Kingsmore said. Hospitals will still seek reimbursement from patients health insurance companies whenever they can, but Sanfords contribution allows work to begin immediately rather than waiting for insurance approval. <\/p>\n
For this to be sustainable and nationwide, we will need to convince insurers to reimburse, Kingsmore said, adding that he expects Rady to begin receiving samples from CHOC next week. <\/p>\n
paul.sisson@sduniontribune.com<\/a> <\/p>\n (619) 293-1850 <\/p>\n Twitter: @paulsisson <\/p>\n <\/p>\n Read the rest here:<\/p>\n Rady Children's ambitious genomics expansion to start in Orange County - The San Diego Union-Tribune<\/a><\/p>\n","protected":false},"excerpt":{"rendered":" Soon, couriers will drive infant blood samples 90 miles south down Interstate 5 from Orange County to San Diego for high-speed genetic sequencing and analysis at the Rady Childrens Institute for Genomic Medicine. The organization, which recently built its own hot rod genetics lab that can do full DNA work-ups in days instead of weeks, announced this week that it has made a pact with Childrens Hospital of Orange County, offering quick-turnaround service for infants in that facilitys intensive care units who need the speed. Though most young patients dont need results in days, a break-neck pace can benefit those with unexplained, life-threatening and progressive symptoms which force physicians to make treatment decisions very quickly. Continue reading