Robert Guthrie

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Robert Guthrie
Born(1916-06-28)June 28, 1916
Marionville, MO
DiedJune 24, 1995(1995-06-24) (aged 78)
Seattle, WA
Known forInventing the bacterial inhibition assay used to screen newborns for phenylketonuria
Scientific career
FieldsMicrobiology
Metabolism
Newborn screening

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.[1] 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.[2] 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

doctor of philosophy.[4] While in school, Guthrie married Margaret, a fellow student, and they eventually had six children together.[3] His early research into bacterial inhibition assays came while he was employed by the Staten Island Public Health Hospital, testing antibiotic sensitivity.[5]

Research interests

Guthrie became interested in causes and prevention of mental retardation 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.

mental retardation, the diagnosis of his niece with PKU turned his attention to preventable causes. Others working with children who had PKU asked Guthrie to focus on a test that would allow for earlier identification, before irreversible damage had taken place.[1]

The Guthrie test

Whole blood being collected on filter paper for newborn screening.

Guthrie developed a simple method to screen for elevated phenylalanine levels using a bacterial inhibition assay. He cultured

serum spotted onto filter paper. Guthrie recognized both the utility of this method as a screening test, and the need to eliminate serum as the sample type to minimize processing. He tested the assay using whole blood collected on filter paper from a heel stick.[1] The collection of whole blood on special filter paper developed by Guthrie is still used in newborn screening programs around the world, allowing babies to be screened shortly after birth for a number of treatable conditions.[8]

After establishing a test that could identify PKU in whole blood spots,

maple syrup urine disease that could be run using the same sample collection as the PKU test.[10]

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.[11]

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.[11]

Guthrie was appalled, but Ames wouldn't lower their price. Guthrie appealed to the U.S. Children's Bureau, which sponsored the field trial, and the Children's Bureau recommended that Miles not be granted exclusive commercial rights. Most of the funding to develop the tests had come from the Children's Bureau ($742,0000) and the Public Health Service ($251,700). The surgeon general determined that the invention belonged to the United States and abrogated the exclusive licensing agreement.[11]

The dispute was the subject of a May, 1965 hearing by the Monopoly Subcommittee of the Select Committee on Small Business of the U.S. Senate. Committee chair Russell B. Long (D-LA) denounced the award of private patent rights on federally funded research, and said, "when the desire to make monopoly profits at the public's expense can adversely affect the health of our children, it is time to call a halt to this immoral and evil practice."[11]

One of the defenders of Ames was Senator Birch Bayh (D-IN), who, with Senator Robert Dole (R-KS), in 1980 introduced the Bayh–Dole Act which allowed universities and small businesses to retain ownership of inventions developed with federal funding.[11]

Legacy

PKU Day

For the 100th birthday of Robert Guthrie the European Society for Phenylketonuria and Allied Disorders Treated as Phenylketonuria invited Patricia Guthrie to the annual conference[12] 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.[13]

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.

See also

Robert Guthrie Legacy Project

References

  1. ^
    doi:10.1309/LMD48N6BNZSXIPVH
    .
  2. ISBN 978-0-932727-91-6
    .
  3. ^ a b Bjorhus, Jennifer (1995-06-25). "Dr. Robert Guthrie, Developer of PKU test". The Seattle Times. Retrieved 2012-07-03.
  4. ISBN 978-0-932727-91-6
    .
  5. ISBN 978-0-932727-91-6
    .
  6. ISBN 978-0-932727-91-6
    .
  7. ISBN 978-0-932727-91-6
    .
  8. ^ Heyns, Terri (2010-06-08). "Protected From Birth: Newborn Screening Saves Lives and Futures". The CDC Foundation. Retrieved 2012-07-04.
  9. S2CID 30689475
    .
  10. ISBN 978-0-932727-91-6
    .
  11. ^
    PMID 23984725
    .
  12. ^ "E.S.PKU Conference 2015 - Berlin, Germany". E.S.PKU. Retrieved 2018-11-23.
  13. ^ "About International PKU (Phenylketonuria) Day, June 28th". www.pkuday.org. Retrieved 2018-11-23.
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