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Artificial intelligence can identify genetic diseases in babies

While many babies are born without any problems, others are born early and have complications. The babies end up in the neonatal Intensive Care Unit (NICU), where Dr. Sabrina Marlon Jenkins works.
"A lot of times, we don't know what the underlying condition is," said the neonatologist at Primary Children's Hospital. "There are many different causes and few of them are the same." Worldwide, about 7 million babies are born with severe genetic disorders each year, and doctors can struggle to treat them if they aren't sure what the problem is, researchers say. "It is estimated that about 20 percent of newborns in high-intensity neonatal intensive care units have some form of a genetic disorder," said Dr. Mark Yandell, professor of human genetics at the University of Utah.

So Dr. Yandell and his team developed a tool that can sequence a baby's genome to find out what genetic diseases are making babies sick. First, doctors take a blood sample from the baby, which is then analyzed by a program using artificial intelligence (AI). The baby's DNA and medical records were then cross-referenced with a global database of medical and scientific data. "The tool can look at all of these things in real-time and come to conclusions with incredible speed," Dr. Yardell said.
Knowing the cause of a newborn's illness is crucial to effective treatment, and getting an accurate diagnosis within 24 to 48 hours of birth is a patient's best chance for improvement, Utah doctors say. "Being able to integrate genomic testing into the NEONATAL intensive care unit will not only let parents know why their child is so sick, but will also give clinicians more information so we can target and personalize treatment to patients," said Dr. Malone Jenkins. Dr. Yandell says the number of unknown genetic diseases has increased by almost a third in the past decade, and they are still discovering new ones, meaning the need for such technologies is growing every day. Scientists at the University of Utah's Department of Health and Fabric Genomics have been researching through a study led by Rady Children's Hospital in San Diego.
The findings were published in the journal Genome Medicine, and doctors say they give us an idea of what the next phase of medicine will look like, in which technology can help doctors quickly figure out the cause of diseases so they can give patients the right treatment more quickly.

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