MedPage Today July 11, 2023
— Whole genome scans took longer than a commercially available test, but not for most urgent cases
Whole genome sequencing captured almost twice as many genetic abnormalities that may be responsible for disease in infants, compared with a standard targeted test, researchers found.
In the Genomic Medicine for Ill Neonates and Infants (GEMINI) study, the diagnostic yield of whole genome sequencing was 49%, compared with 27% with NewbornDx, a standard targeted gene panel, Jill Maron, MD, MPH, of Women and Infants Hospital of Rhode Island in Providence, and colleagues reported in JAMA.
Whole genome sequencing did take longer to return results on average — 6.1 days versus 4.2 days for NewbornDx — but it actually took less time for the...
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