Genetic Testing in the Neonate

Genetic testing that includes rapid genomic sequencing is increasingly being used in the neonate and has the potential to impact neonatal care and outcomes. Neonates with unexplained dysmorphic features or one or more congenital anomalies, unexplained dysfunction in one or more organ systems, or out of proportion clinical severity warrant genetic testing. Unless clinical features strongly suggest a specific chromosomal or single gene disorder, a broader genetic testing approach, ideally rapid exome or genome sequencing, is suggested. Neonatal providers should be aware of advances in genetic testing and collaborate with clinical geneticists and genetic counselors throughout the genetic testing process.