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Targeted genome sequencing found to deliver routine results more quickly and at a lower cost; lack of standardization in analytic techniques remains a barrier to diagnosis and medical care for genetic disorders in the first year of life.

Tufts Medical Center and Prapela have been awarded a joint $2.5 million grant from the National Institute on Drug Abuse to help advance the development hospital bassinets for the treatment of newborns diagnosed with Neonatal Abstinence Syndrome (NAS)/Neonatal Opioid Withdrawal Syndrome (NOWS).

A national clinical trial led by Tufts Children’s Hospital researchers has found that both targeted genome sequencing and whole genome sequencing may help diagnose genetic abnormalities in neonates and infants. However, the technology and interpretations of results continue to have significant limitations that require further research and understanding.