Patient Worthy Salutes Robert Guthrie, PKU Test Creator, in Honor of Newborn Screening Month

The 1960s were a time of social rebellion and reform. The Civil Rights Movement, the feminist movement, and Vatican II all rose from a growing sense of dissatisfaction with the status quo.
But there’s another revolutionary movement that began in the ’60s that often goes unheralded: Newborn screenings for everything from cystic fibrosis to phenylketonuria (PKU) to tyrosinemia.

Until 1961, when Robert Guthrie, MD, Ph.D. developed a test for phenylketonuria (PKU) that could be administered shortly after birth, infants around the world were vulnerable to this metabolic disorder — as well as countless others. Like many of our most vocal advocates, Dr. Guthrie’s life had been impacted by this disease. His second son was born with developmental disabilities and his niece had PKU.

According to the Newborn Screening Translational Research Network, Guthrie’s background was in cancer treatment, but as he learned more about PKU and the lack of testing for it, he determined to devise a method.

At first, he tested it on children who exhibited cognitive impairment from birth and discovered that many of them had PKU, and had not been correctly diagnosed. He knew from his research and discussions with experts in treating people with PKU that dietary restrictions helped regulate phenylalanine levels and therefore could prevent loss of cognitive function.

A light bulb went off!  If infants could be tested immediately after birth for this condition, the effects of PKU might be preventable with diet! Guthrie developed a way for a small blood sample to be taken from the heel of a baby and transferred via a paper filter for testing in his lab.

In 1961, Guthrie began offering the PKU test to hospitals and soon received funding from the United States Children’s Bureau to try PKU screening on a national basis. Within two years, 400,000 infants were tested from 29 states, resulting in no less than 39 positive cases of PKU.

Thanks to Dr. Guthrie, today newborn screenings test for as many as 34 disorders, diseases, and conditions as identified by the Health Resources and Services Administration (HRSA). Among them are rare but treatable diseases, including adrenoleukodystrophy, tyrosinemia, cystic fibrosis, and sickle cell anemia.

There is no estimation of how many young lives Guthrie has saved over the years since he introduced his revolutionary test, but there are certainly thousands, if not millions, of families who are grateful for this unsung hero of the 60s.

Newborn screenings continue to evolve, become more accurate, and screen for an increasing number of rare metabolic diseases. Check out these resources for more information on newborn screenings:

Follow us