The Expansion of Newborn Screening: Implications
for Public Health and Policy
Leila Barraza* and Lauren Burkhart**
Newborn Screening Programs (NBS) have proven to be a successful
model of public health intervention. Shortly after birth, a blood sample is
taken from the heel of newborn babies and tested for certain conditions.
Analysis of the newborn’s genome is used at the present time only for con-
firmation of a positive test from a newborn screen.
2 Whole Genome Se-
quencing (WGS) of newborns as a routine procedure, however, is the next
progression in the development of newborn screening programs. The reason
for this progression to a whole genome approach, according to the Presi-
dent’s Commission on Bioethics, is “because the logic of personalized med-
icine and of technological progress will inexorably demand it.”
3 Further, the
interest among parents exists for such a program to develop.
4 This article
examines the history of current newborn screening programs and looks be-
yond into the potential for expansion into WGS as a newborn screening
method. Benefits from WGS of newborns could reap enormous benefits for
public health research for disease prevention and health promotion. Expan-
sion into new scientific areas is never easy and will require a consideration
of ethical and legal constructs and changes in state statutory law. This arti-
cle looks at policy considerations that will necessarily be examined and ad-
dressed for a shift from the current blood spot program to a WGS approach.
J. D., M.P.H., Assistant Professor, Mel and Enid Zuckerman College of Public
Health, University of Arizona.
J. D., Sandra Day O’Connor College of Law, Arizona State University, 2014.
1. PRESIDENT’S COUNCIL ON BIOETHICS, THE CHANGING MORAL FOCUS ON NEWBORN
SCREENING: AN ETHICAL ANALYSIS BY THE PRESIDENT’S COUNCIL ON BIOETHICS
2. See id. at 9.
3. Id. at 56.
4. See Aaron J. Goldenberg et al., Parents’ Interest in Whole-Genome Sequencing of
Newborns, 16 GENETIC IN MED.
78, 80 (2014). A recent study done of parents throughout the
U.S. found that over seventy percent of parents surveyed would be definitely or somewhat
interested in utilizing WGS if offered through a state’s newborn screening program. Id.