Robert Guthrie

Robert Guthrie, MD, Ph.D. (June 28, 1916 – June 24, 1995) was an American microbiologist, best known for developing the bacterial inhibition assay used to screen infants for phenylketonuria at birth, before the development of irreversible neurological damage. Guthrie also pioneered the collection of whole blood on specially designed filter paper, commonly known as "Guthrie cards" as a sample medium that could be easily collected, transported and tested. Although Guthrie is best known for developing the test for phenylketonuria, he worked tirelessly to raise awareness of the need to screen for treatable conditions and adapted his method to early screening tests for galactosemia and maple syrup urine disease.

Early life Guthrie received his doctorate from the University of Minnesota, although his education took a circuitous route, as he eventually earned six degrees in six years, including both a medical doctorate and a doctor of philosophy. While in school, Guthrie married Margaret, a fellow student, and they eventually had six children together.

Research interests Guthrie became interested in causes and prevention of intellectual disability after his son, John, was born disabled in 1947. Despite his work in the field, the cause of his son's disability was never diagnosed. In 1958, Guthrie's 15-month-old niece was diagnosed with phenylketonuria (PKU), a condition in which the body cannot metabolize phenylalanine. Untreated PKU results in irreversible neurological damage. The main drawback in successful treatment of PKU was the delay in identifying affected individuals. The common test for PKU at the time was mixing urine with ferric chloride. The excess phenylpyruvic acid in the urine of an individual with PKU would produce a bright green colour when reacting with the ferric chloride. Infants do not excrete high enough concentrations of this compound to give a positive test result, thus delaying their diagnosis, and allowing irreversible damage to take place.

After establishing a test that could identify PKU in whole blood spots, Guthrie set out to test his method, starting in an institution in New York. Here, his test correctly identified all patients known to have PKU and also four who had previously been undiagnosed.

Patent controversy

Guthrie decided that commercial production would be the most efficient way to manufacture 400,000 test kits, so he approached the Ames Company, a division of Miles Laboratories, which manufactured the older PKU tests. Ames said it would only manufacture the kits if a patent was issued, so Guthrie filed a patent application in 1962 and signed an exclusive licensing agreement with Miles, under which he would receive no royalties and 5% of the proceeds would be divided among the National Association for Retarded Children Research Fund, the Association for Aid of Crippled Children, and the University of Buffalo Foundation.

Miles couldn't produce the kits fast enough, so Guthrie produced his own kits for 500 tests at a cost of $6 each. But in 1963, he found out that Ames planned to charge $262 for the same kit. to give a speech about her father. In subsequence she launched the Robert Guthrie Legacy Project to honor the efforts of Robert Guthrie to Phenylketonuria. His birthday, June 28, which is the same as the one of Horst Bickel, was taken up to launch the International PKU Day.

International Neonatal Screening Day

On June 28, 2021, IPOPI, ESID and ISNS launched the first International Neonatal Screening Day (INSD) as a tribute to Dr Robert Guthrie. INSD helps raise awareness about the value of neonatal screening, encourages improvements on existing screening programmes and the advancement of scientific developments.

Robert Guthrie Award The International Society for Neonatal Screening awards the Robert Guthrie Award to a member "who has made an outstanding contribution to newborn or other population-based screening which is recognized as such world-wide". Notable recipients include New Zealand paediatrician Dianne Webster, who directed New Zealand's national newborn screening programme for twenty-five years.