Gene sequencing infants with rare diseases speeds diagnosis time

Next-generation sequencing gives clinicians a complete picture of a patient's genome, which can be used to connect the dots between the more than 4,800 genes known to be associated with rare diseases. In a pilot study, researchers used this technique in a small group of infants in a neonatal intensive care unit to help determine to what rare conditions they were genetically predisposed.

According to findings published in the Canadian Medical Association Journal, the sequencing provided a molecular diagnosis for 40 percent of the infants in the study. The technique can be performed in hospitals without having to send away for results and significantly speed the generation of a treatment plan, according to the authors.

"Enabling the family to understand why their baby is ill can help to assuage the almost universal guilt felt by parents that they did something wrong to cause their baby's illness," Sarah Bowdin, MD, co-author of the study, wrote in a commentary accompanying the research. "It can also indicate whether other family members may be at risk of the same disease and provide an accurate recurrence risk for future pregnancies."

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