cause serious defects including permanent severe retardation.
14 Notably, a
special diet absent of this substance allows affected children to entirely
avoid these consequences and live a healthy life.
15 Early detection is the key
to their health and quality of life. Dr. Robert Guthrie thus developed a
screening test for PKU that involved pricking the foot of a newborn and
collecting and transporting the blood samples on filter paper.
Massachusetts was the first to launch a voluntary newborn screening
program for PKU in 1962, and its program demonstrated the feasibility of
17 Multifarious advocacy campaigns led most states to pass
laws mandating PKU screening soon thereafter.
18 Forty-three states had
programs in place by 1973, with panels expanding to include other actionable conditions, and state health departments generally assumed the central
role in the laws’ implementation.
19 The programs’ federal support grew
with the passing of federal legislation to support screening in 1976, the establishment of the CDC’s Newborn Screening Quality Assurance Program
(NSQAP) in 1978, and the award of federal funding to thirty-four state genetic service programs between 1979 and 1980.20 Federal involvement in
the development of newborn screening programs has continued, with the
NSQAP steadily adding disorders to its program, which is devoted to quality assurance and state public health assistance.
Though testing for PKU caught on quickly, the expansion of testing for
additional conditions through NBS programs grew slowly. In 2002, the Maternal and Child Health Bureau and the Health Resources Services Administration (HRSA) of the U.S. Department of Health and Human Services
commissioned a report from the American College of Medical Genetics
(ACMG) to analyze the effectiveness of newborn screening, develop recommendations for a uniform list of conditions that should be included, and
14. Mayo Clinic, Phenylketonuria (PKU) – Definition (Nov. 17, 2011),
20026275; Mayo Clinic, Phenylketonuria (PKU) – Symptoms (Nov. 17, 2011),
15. Univ. of Wash., See What is the Diet for PKU?, http://depts.washington.edu/
pku/about/ diet.html (last visited May 22, 2014).
B. ANDREWS ET AL., GENETICS: ETHICS, LAW & POLICY 381 (3d ed. 2010). The
“Guthrie test” was the prominent method of newborn screening for decades until its recent
widespread replacement with tandem mass spectrometry. Id.
18. Id. at 382.
21. U.S. DEP’T OF HEALTH & HUMAN SERVS. ET AL., Newborn Screening Laboratory
Bulletin (Oct. 2008), http://www.cdc.gov/nbslabbulletin/bulletin.html. The NSQAP program
included one disorder at its inception in 1978, eight disorders in 1988, seventeen disorders in
1998, and forty-eight disorders by 2008. Id.