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Neonatal Genomics | Overview

The Neonatal Genomics Program at Boston Children’s Hospital is a collaborative, multidisciplinary clinic dedicated to identifying and evaluating genetic disorders in newborns and infants. Our goal is to provide more accurate diagnoses and treatments for critically ill infants with genetic disorders through research and clinical practice.

Our clinical program aims to:

  • achieve molecular diagnosis using rapid exome or genome sequencing and other omics approaches
  • perform molecular autopsies in babies who die of unexplained causes
  • follow infants and babies who have been diagnosed with genetic-related diseases

Though a genetic cause is often suspected in children with neurodevelopmental disorders, genetic testing typically comes up empty. Pankaj Agrawal and his team in the Neonatal Genomics Program are trying to change that and give families closure.

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Storm and Freya pose for the camera

Our treatments and services

The Neonatal Genomics Program at Boston Children’s Hospital provides families, neonatologists, and other clinicians with the following treatments and services:

  • Diagnostics: Using technologies such as rapid exome and genome sequencing within the Neonatal Intensive Care Unit (NICU), we can identify uniquely afflicted genes and determine the functional basis of disease so that we can diagnose them as early as possible and find the appropriate therapies. As part of our diagnostic work, we also reanalyze clinical exomes or genomes from the NICU when results are inconclusive or negative. In addition, we use multiple -omics approach on a clinical basis including RNA-seq, proteomics, and epigenomics in select cases where they can help achieve a molecular diagnosis.
  • Molecular autopsy for unexplained neonatal death: Often the underlying cause of an infant’s death goes unknown despite diagnostic efforts, including autopsy. Genetic disorders, including chromosomal abnormalities and monogenic Mendelian disorders, contribute considerably to these mortalities.

    Through the Newborn Genetics Program, an infant who has died from an unexplained death can be enrolled to our study to determine the cause of death where we collect their DNA and tissues, and perform genomic sequencing to determine the cause of death.

  • Developmental follow-up program: Working with the Precision Medicine Service, we follow infants and babies who have been diagnosed with a genetic-related disease. By following these families long term, we optimize their care along with helping them navigate the emotional, social, and logistical effects of a genetic diagnosis.

Neonatal Genomics | Contact Us

Contact the Neonatal Genomics Program
617-721-2262