When researcher Robert Guthrie, MD, PhD (1916-1995), began developing a new screening test for phenylketonuria (PKU) in the late 1950s, prospects for children with the disorder were poor. There was evidence that a diet low in phenylalanine could improve outcomes for children with PKU, but most children were not being diagnosed as having the disorder in time to prevent irreversible damage.
Guthrie, who began his clinical career as a cancer researcher, became interested in treatments for developmental disabilities because he had a young niece with PKU and a young son with an intellectual disorder, according to Edward McCabe, MD, PhD, medical director of the March of Dimes, which funded Guthrie's work on PKU. By the early 1960s, Guthrie had demonstrated that his test was effective (Guthrie R. JAMA. 1961;178:863 and Guthrie R and Susi A. Pediatrics. 1963;32:338-343). According to the March of Dimes, Massachusetts was the first state to begin using the test for newborn screening, and others soon followed suit. Guthrie predicted that the use of dried blood spots for the test would be an important part of his legacy, McCabe said.
Kuehn BM. After 50 Years, Newborn Screening Continues to Yield Public Health Gains. JAMA. 2013;309(12):1215-1217. doi:10.1001/jama.2013.2087