Inspired by his mentally disabled son, Robert Guthrie, MD, PhD,
became a tireless advocate for individuals with intellectual
handicaps. He devoted much of his career to researching the
prevention of mental and developmental disabilities.
To that end, the longtime UB professor of microbiology and
pediatrics set out to produce a simpler method for screening
infants for phenylketonuria (PKU), a genetic disorder characterized
by an inability of the body to break down the amino acid
phenylalanine.
Recognizing that the earlier treatment begins for PKU, the
better the prognosis for intellectual growth, he developed a way to
collect discs of whole blood from infants: sticking the
baby’s heel and blotting the emerging drops of blood with
filter paper.
The first screening took place in 1961 in Jamestown, New York.
With funding from the Maternal and Child Health Division of the
U.S. Children’s Bureau, Guthrie then launched a widespread
testing initiative.
“We rented a house next to Children’s Hospital [of
Buffalo] and established a little factory to prepare materials for
testing one million infants,” said Guthrie. “Our goal
was to package the test so that everything would be
instant—like instant coffee. In that way, the laboratories
testing for PKU would not have to employ trained bacteriologists,
but could easily mix the ingredients and perform the test with
existing personnel.”
Guthrie, who died in 1995, declined to patent his test or accept
royalties from its sales, which allowed hospitals to quickly and
inexpensively implement PKU screening on a large scale.
In time, the filter test—which is estimated to have spared
300,000 children from the effects of mental disabilities—came
to be used by all 50 states to screen for PKU.
Furthermore, Guthrie’s dried-blood spot testing method
spread to almost every field involving blood collection and has
made possible the multiple newborn screening routinely conducted
today.
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