Dr. Robert Guthrie and the March of Dimes
Robert Guthrie, M.D., Ph.D. (1916-1995),
was a physician and researcher who gained national and international fame for
developing the first mass screening test in newborns for phenylketonuria (PKU),
a metabolic disorder that, left untreated, causes severe brain damage and
mental retardation. The test he created became the standard for newborn
screening worldwide and is still known today as the “Guthrie test.”
Dr. Guthrie was born in Marionville,
Missouri and earned his medical degree (1945) and his doctorate in bacteriology
(1946) at the University of Minnesota. During his early career, he was a
surgeon, a microbiologist, and a cancer researcher. In 1958, he joined the
University of Buffalo School of Medicine and Biomedical Sciences faculty, where
he conducted his path-breaking investigations into PKU.
As Associate Professor of Pediatrics
and Bacteriology in the Department of Pediatrics at the University of Buffalo,
Dr. Guthrie applied for and received a grant of $35,000 from the March of Dimes
in 1961 to support his work on a mass newborn screening test for PKU. The March
of Dimes had launched its new Expanded Program against birth defects in 1958,
and within a year had initiated discussions about newborn screening for
disorders of body chemistry. Diagnostic tests for some of these conditions
existed, but were cumbersome and expensive. Simpler, reliable screening tests
were needed to make early detection of conditions both possible and practical
on a large scale before death or
catastrophic damage occurred.
PKU was chosen as an early target by
the March of Dimes’ new effort because it is relatively common (about 1 in
12,000 births), was known to be detectable, and led to severe, life-long
disability. PKU is an inherited genetic disorder in which the body cannot
produce enzymes needed to break down the protein phenylalanine. As
phenylalanine builds up in the bloodstream shortly after birth, toxic effects
to the brain cause irreparable damage. However, if PKU is identified early
enough, mental retardation can be prevented by immediately putting the baby on
a special low-protein diet consisting of foods that have little or no
phenylalanine.
Dr. Guthrie’s idea was for a bacterial
inhibition assay test, that is, identifying bacterial growth in the blood in
the presence of abnormally high amounts of phenylalanine. His most important
discovery was that the test could be performed using only a few drops of blood
– which could be obtained by pricking a baby’s heel – deposited onto special
filter paper for transport and analysis. Dr. Guthrie understood that the best
way to avoid missing a child born with PKU would be to take blood samples in
the hospital, before babies were discharged.
Dr. Guthrie’s breakthrough ushered
in the era of state-mandated newborn screening. In 1965, the state of New York
made his test for PKU mandatory for all babies, and today all 50 states require
PKU testing. The success of newborn screening programs has brought
extraordinary advances in the health of babies and made screening routine for
the millions of babies born each year in the U.S. and many other nations.
Subsequently, the March of Dimes
supported the development and implementation of newborn screening tests for
other serious disorders, including congenital hypothyroidism, biotinidase
deficiency, and congenital adrenal hyperplasia. The March of Dimes now
recommends that every baby born in the United States receive screening for a
uniform panel of 29 conditions, and has made this issue a top advocacy
priority.
It has been estimated that the
Guthrie test for PKU has spared over 30,000 individuals in the U.S. from a life
of mental retardation. On the 40th anniversary of newborn screening,
the March of Dimes salutes Dr. Robert Guthrie as a leader in its history of
successful efforts to save babies. Thanks to his pioneering research, newborn
screening is now recognized as a simple, safe, and efficient way to prevent
devastating conditions in children.
December 11, 2005 / Source: March of Dimes Archives
