Name: Utah doctors expect rapid DNA testing of ill newborns will revolutionize care
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Utah doctors expect rapid DNA testing of ill newborns will revolutionize care

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SHARESALT LAKE CITY — A new study using rapid genome sequencing to diagnose infants in the NICU at the University of Utah and Primary Children’s hospitals has the potential to revolutionize the way newborns are cared for, according to doctors.“The use of this rapid genome sequencing technology, it’s really hard to overstate how transformational it is. So basically, up until recently, we’ve been kind of like flying an airplane in the fog in the dark, trying to get someplace. And now, with whole genome sequencing, you’ve gotten rid of the fog and you’ve got the lights on, so you can actually see where you’re headed,” said Dr. Josh Bonkowsky, U. health professor of pediatric neurology.“And so it’s just totally understanding the landscape of understanding disease and sometimes treating disease.” The study rolled out two weeks ago at the U., Bonkowsky said, and two infants have so far been tested at the hospital. The U. has built into the study the option to give the results to their parents, which took “complex work” to make possible. The study will run through 2021, and then the rapid testing is expected to become clinically available. “And we really need to make the case to insurance companies and to parents about how this test is something they should be expecting for top-notch care for their children. This is not the frosting on the cake, this is the cake itself,” Bonkowsky saidThe test seeks out diseases in critically ill infants in order to confirm the child has a disease, or to rule it out. Nurses will ask parents to volunteer their own blood, as well as their child’s, to be DNA sequenced using rapid whole-genome sequencing. ARUP Laboratories’ molecular geneticists help interpret the results. The sequencing, which Bonkowsky describes as the “best technology,” gives a diagnosis in half of cases. A frontier of medicine in the future will be to figure out how to diagnose the other 50% of cases, including environmental or undiscovered aspects of genealogy.The sequencing slashes the amount of time it takes to get results from weeks to up to 72 hours, U. officials said. It costs between $12,000 and $15,000, Bonkowsky said — a cost similar to several days spent in the NICU. While the price tag appears high, Bonkowsky says it could save families hundreds of thousands of dollars in the long run. “It just helps us alter some of our decision-making and goals for a baby to be able to get home depending on what their diagnosis is,” explained Dr. Sabrina Malone Jenkins, a neonatologist and U. health assistant professor of pediatrics.The initial challenge to the program is trying to figure out which patients would benefit from the technology the most, as funding is limited, Malone Jenkins said, and how to apply the results to patients. While the study is ongoing, the testing is free for families selected. In the first infant who’s been tested so far at the U., doctors found the child has no specific disease that they were missing, but the test didn’t give a specific diagnosis to discover exactly what was causing the child’s health issues. “But at least it helps us and the families to reassure that we don’t know exactly what’s going on, but we know there’s nothing we need to panic about immediately,” Bonkowsky said. Doctors as of Tuesday were expecting results soon for the second child.The ability to test DNA has exponentially improved over the past few years, Bonkowsky said. Five years ago, he said he could order one gene at a time to be tested, followed by 100 genes three years ago, and 20,000 genes two years ago. “And then now, you can get the entire genome. And so the analogy is, the 20,000 genes you could represent with one of those instant packs of oatmeal bags. ... Now with whole genome (sequencing), it’s like a 50 pound bag of oatmeal,” Bonkowsky said. The technology that interprets genomes has evolved to allow for the tests, he said. Primary Children’s Hospital originally began the program in August with help from the U., with the goal of eventually bringing the testing around Utah. Telehealth will aid in delivering specialists’ expertise to centers across the state, Bonkowsky said. A team of about 15 people has been working from six to eight months to put the program into place at the U., according to Bonkowsky. About 50 kids have been tested at Primary Children’s, and about half received diagnoses — the expected rate. “And in a couple cases, it’s made spectacularly important differences in these kids’ lives, and the families’ lives, too. I think just knowing that they don’t have to worry, or if we find a condition, kind of knowing what to expect. In some cases, finding a specific treatment, that’s made a world of difference to folks,” Bonkowsky said. One family he recently spoke to had a negative experience before the technology was available, and they went through a long process waiting to learn of their child’s condition. Early diagnosis is important because sometimes, there’s a specific treatment the child can receive. For example, in spinal muscular atrophy, getting diagnosed within the first week or two of life can make the difference between being able to walk versus never receiving the necessary treatment, Bonkowsky said. Getting results early can also save families stress and money that would be spent on repeated testing. “It’s subtle, but it’s very insidious effects,” Bonkowsky said. Diagnosis can also help families get information about what their child’s future and needed care will look like. The raw data found in the sequencing is also going into a bio-banking database for research in the future. 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SHARESALT LAKE CITY — A new study using rapid genome sequencing to diagnose infants in the NICU at the University of Utah and Primary Children’s hospitals has the potential to revolutionize the way newborns are cared for, according to doctors.“The use of this rapid genome sequencing technology, it’s really hard to overstate how transformational it is. So basically, up until recently, we’ve been kind of like flying an airplane in the fog in the dark, trying to get someplace. And now, with whole genome sequencing, you’ve gotten rid of the fog and you’ve got the lights on, so you can actually...

Utah doctors expect rapid DNA testing of ill newborns will revolutionize care

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