Advances In Rapid Gene Sequencing Show Promising Results In NICU

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Researchers from the Children’s Mercy Hospital in Kansas City have published promising findings from a study they conducted evaluating the value of using rapid genome sequencing in the NICU setting. Currently, neonatologists see a case mix that includes a high percentage of newborn patients that are in the NICU because they are failing to thrive for unknown reasons. While the majority of NICU babies are there because they were born prematurely, many others are admitted due to seizures, breathing disorders, or nutritional issues that doctors scramble to control while unsure of the underlying cause. In these cases, DNA analysis has proven to be a valuable diagnostic tool. 

Currently, neonatologists can have a newborn’s DNA sequenced in about 50 hours. While this is an astonishing testament to advances in genetic sequencing, it is often still too long for providers working with critically ill patients in the NICU who need answers as soon as possible. It was just this situation that drove scientists at Children’s Mercy Hospital to pilot an improved DNA sequencing system that delivers results in as little as 26 hours.

Instead of conducting full genome sequencing, providers at Children’s are using a software program that helps them target DNA screening. The program, called the Phenomizer, evaluates the patient’s symptoms and then produces a differential genetic diagnosis list based on probability and paired with probable genetic mutations. Next, blood is drawn and sequenced, looking specifically for these high-probability genetic mutations. Using this method, researchers are reporting that 60 percent of NICU patients tested were able to be diagnosed with a genetic disorder within 26 hours of having blood drawn. The test had a 99.5 percent specificity and sensitivity, making it a diagnostic tool comparable with the 50-hour sequencing test currently being used.

By cutting the time from blood draw to diagnosis almost in half, researchers at Children’s Mercy Hospital have shown that genetic sequencing can be a valuable tool in treating acute-care patients with a high likelihood of having an actionable genetic disease.


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