Identifying genetic disorders in newborns and infants can help them get the care they need, but one approach -- whole genome sequencing -- appears far superior to another.
WGS detected a genetic disorder in 49% of patients, the researchers said. The targeted gene sequencing test identified a genetic disorder in 27% of the patients, missing 40% of diagnoses that WGS captured.
“This study provides further evidence that genetic disorders are common among newborns and infants,” said co-author Dr. Stephen Kingsmore, president and CEO of Rady Children's Institute for Genomic Medicine in San Diego. “The findings strengthen support for early diagnosis by rapid genomic sequencing, allowing for the use of precision medicine to better care for this vulnerable patient population.
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