If you have an ACS member number, please enter it here so we can link this account to your membership. (optional)

ACS values your privacy. By submitting your information, you are gaining access to C&EN and subscribing to our weekly newsletter. We use the information you provide to make your reading experience better, and we will never sell your data to third party members.


Biological Chemistry

Newborn Gene Screens

Health: National Institutes of Health program will evaluate use of genome sequencing at birth

by Britt E. Erickson
September 6, 2013 | A version of this story appeared in Volume 91, Issue 36

Credit: Steven Fruitsmaak
Heel pricks may soon be used to generate a wealth of health data on newborns.
A newborn baby gets its heel pricked in a doctor’s office.
Credit: Steven Fruitsmaak
Heel pricks may soon be used to generate a wealth of health data on newborns.

Nearly all of the 4 million babies born in the U.S. each year are tested for a few dozen disorders at birth by using a drop of blood from a heel prick. But as the cost of whole-genome sequencing plummets, public health officials are becoming increasingly interested in the possibility of using the technology to test newborns for all of the 8,000 or so known heritable diseases.

One indicator of the growing interest: The National Institutes of Health plans to spend $25 million over the next five years to determine whether sequencing the genomes of newborns can yield health-related information beyond that provided by current tests. The new program, funded jointly by NIH’s National Institute of Child Health & Human Development (NICHD) and the National Human Genome Research Institute (NHGRI), will examine the technical aspects, as well as the thorny ethical challenges, raised by genome sequencing for newborns.

For example, researchers will need to ask how a newborn baby’s privacy will be protected, what the appropriate consent processes should be for parents, where newborns’ genome data will be stored, and who will have access to the data, says Alan E. Guttmacher, director of NICHD.

NIH awarded the first four grants under the Genomic Sequencing & Newborn Screening Disorders research program last week. The four pilot projects will receive a total of $5 million this year.

Two of the teams will sequence the exomes—short stretches of DNA that code for proteins—in healthy newborns as well as in newborns with diseases such as cystic fibrosis or metabolic disorders. The goal is to determine whether genome sequencing can be used to screen for disorders picked up by current tests as well as other disorders.

Another group will examine the use of genome sequencing in newborns that require intensive care because of a severe illness in hopes of decreasing the length of time to reach a diagnosis. The fourth group will examine how parents and doctors respond to receiving genomic information.

“There are a number of important and challenging questions to answer,” says Eric D. Green, director of NHGRI. One of the questions NIH hopes to answer is whether complete genome sequence information is too much information for either parents or clinicians to handle, he notes.



This article has been sent to the following recipient:

Chemistry matters. Join us to get the news you need.