Genetic Newborn Screening

Baby Genes is ahead of the curve by offering targeted sequencing of genes on the recommended Newborn Screening Panel of genetic disorders since 2015.

The Hastings Center Report Volume 48, Issue S2

The Ethics of Sequencing Newborns: Reflections and Recommendations

“We conclude that sequencing technology can be beneficially used in newborns when that use is nuanced and attentive to context.”

Sequencing in newborn screening is beneficial in the following context:

  •  “While we recognize considerable benefit in using targeted sequencing to screen for or detect specific conditions that meet the criteria for inclusion in the NBS screening panels, use of genome-wide sequencing as a sole screening tool for newborns is at best premature.” The report goes on to explicitly recommend against whole-exome or whole-genome sequencing of newborns.
  • “Parents should not use direct-to-consumer sequencing for either diagnosis or screening of their newborn.”

Baby Genes

At Baby Genes, we have a targeted NBS panel of genes clinically linked to diseases that are recommended to be included on NBS by the Advisory Committee on Heritable Disorders in Newborns and Children. Review the genes and conditions we currently cover.

The mission of the Advisory Committee on Heritable Disorders in Newborns and Children is to reduce morbidity and mortality in newborns and children who have, or are at risk for, heritable disorders. The Advisory Committee on Heritable Disorders in Newborns and Children (Committee) was established under the Public Health Service Act, Title XI, § 1109 (42 U.S.C. 300b-10), as amended by the Newborn Screening Saves Lives Reauthorization Act of 2014 (P.L. 113-240).

Baby Genes follows clinical laboratory guidelines and requires that testing be ordered by a physician and parents make an informed decision. See our informed consent and test requisition forms for NBS.  Baby Genes, Inc. is a CAP Accredited, CLIA-certified diagnostic laboratory that offers advanced newborn testing using Next-Generation Sequencing (NGS).

The essay “What Genomic Sequencing Can Offer Universal Newborn Screening Programs” by pediatric geneticist Cynthia M. Powell in the special report highlights the benefits target sequencing in NBS provides.

  • “For many of the conditions that newborns are already screened for, sequencing can return more specific and more sensitive results.”
  • “(It) could also decrease the number of false positives generated in public health programs, thereby lessening the emotional and financial burden on parents and the health care system.”
  • Sequencing allows panels “to expand the list of rare pediatric conditions they look for, thereby identifying more infants who can benefit from immediate care.”

Find out more about the Baby Genes Supplemental Newborn Screen.

Read our FAQ section