Sequenced at Birth: A New Era in Newborn Screening?


Every year, millions of babies are born in the United States. Before leaving the hospital, all babies are routinely screened for selected inherited and congenital conditions using a few drops of blood from the newborn’s heel. The blood is checked for chemicals and defective proteins that signal the presence of disease. Newborn screening programs aim to identify diseases that affect a child’s life expectancy and quality of life if they are not detected and treated early. Each state requires newborn screening for nearly 30 conditions; some states require screening for up to 50 or more conditions.

Recently, the National Institutes of Health launched the Genomic Sequencing and Newborn Screening Disorders Research Program to evaluate if sequencing of newborns’ genomes can provide useful medical information beyond what current newborn screening programs already provide. By mapping a newborn’s genetic code, genomic sequencing will provide information about many more conditions than current newborn screening programs. The ultimate goal? That all newborns will be sequenced at birth and their genomic sequence will become part of their medical records to be used over their lifetime to detect and manage disease and inform medical decision-making.

New technologies such as genotyping and sequencing have already become a regular part of carrier screening tests, including Recombine’s Comprehensive Carrier Screen. However, unlike carrier screening, newborn screening is performed on babies rather than prospective parents. As a result, this emerging era of newborn screening is surrounded by a host of ethical, legal and social considerations that the research endeavor will explore. Some of these concerns include: What information should be examined in a newborn’s genome? How much of it should be reported to families? Who owns and controls this data?

To learn more about newborn screening programs, please visit Baby’s First Test and the March of Dimes.


About Author

Stephany Foster

Stephany Foster is the Associate Scientific Writer at Recombine, a genetic testing company based in New York City. She writes on topics spanning fertility, reproductive medicine, and recent advances in genomics. Stephany also writes about recently published research that Recombine presents at conferences and meetings around the globe. Before joining Recombine, Stephany interned at the George Church Lab at Harvard Medical School. She graduated from Brown University with an A.B. in Biology in 2014.