1. In this prospective cohort study, 1 out of 500 newborns were diagnosed with a medical condition that was detected via genetic sequencing but was missed by more commonly used biochemical screening tests.
Evidence rating level: 1 (Excellent)
Newborn screening (NBS) is routinely performed across the world using biochemical testing methods. The effectiveness of genetic sequencing as an alternative method for NBS has not previously been studied. Researchers aimed to compare the ability of biochemical and genetic sequencing methods to detect disorders in newborns. This prospective cohort study included 29,601 newborns in China between February 21 and December 31, 2021. All newborns were screened via both biochemical and genetic sequencing methods. The more traditional biochemical screen is able to detect 43 disorders, while genetic sequencing is able to detect an additional 85. Via genetic sequencing, 813 infants screened positive (2.7%; 95% CI, 2.6%-2.9%), with 402 of these resulting in a diagnosis, which is a positive predictive value of 50.4% (95% CI, 50.0%-53.9%). One out of every 500 newborns was diagnosed with a condition that went undetected by biochemical screening (95% CI, 1/385-1/625). As this study was conducted among only Chinese newborns, similar studies may need to replicate this data before screening recommendations can be made in other countries. Overall, this study demonstrates that genetic sequencing improves the detection of medical conditions during NBS compared to biochemical testing.
Click to read the study in JAMA Network Open
Image: PD
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