GUARDIAN study advances screening in newborns – Contemporary Pediatrics

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Wendy Chung, MD, outlines the goals of the GUARDIAN study and how whole genome sequencing can improve screening in newborns,

In this interview, Wendy Chung, MD, discusses the Genomic Uniform-screening Against Rare Diseases In All Newborns (GUARDIAN) study, which aims to improve screening in newborns through the use of whole genome sequencing.
Chung had begun newborn screening pilots in 2016 with spinal muscular atrophy, making sure screening was able to diagnose conditions and that treatment would follow, saving lives. This study led to screening being standard for spinal muscular atrophy and encouraged Chung to further pursue screening.
GUARDIAN is Chung's most ambitious study. Rather than screening for 1 condition, it will screen for 250 conditions all at once. With consent from parents, the screening will occur without additional burdens for newborns or families. DNA sequencing reads out the genes and identifies which babies are most likely to have the conditions screened for.
Families, scientists, and doctors came together to figure out which conditions are most likely for children to develop by age 5 years and included them in the study. The study was also designed to make definite diagnoses, along with helping connect parents with treatment.
By reading out the code, whole genome sequencing allowed doctors to find "typos" that might affect the way the genes function. From experience, doctors will be able to determine how these conditions will affect newborns if untreated, and provide treatment for infants diagnosed.
Many of the conditions arent's diagnosed in children until they are aged 7 or 8 years, or even aged 17 or 18 years. Chung believes some people never get diagnosed, living with their conditions without treatment. Improving well-being is Chung's goal, reducing hurdles for diagnosis so that treatment can begin early in life.
"This is going to be an iterative process," Chung said. This study is constantly providing new knowledge, allowing investigators to make progress that can provide the groundwork for a new way to manage conditions in newborns worldwide.
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