History of Newborn Screening

Newborn screening in the United States dates back to the early 1960s.  Before this time, infectious diseases, such as diarrheal diseases and influenza, had been such a threat to infant mortality, that the treatment of these diseases had been the primary focus of the medical community.  After antibiotics became more prominently used thus resulting in a drop in the infant mortality rate, focus could shift to the proactive detection of diseases through newborn screening.  The focus of the Federal Government shifted as well as the focus of the medical community.  President John F. Kennedy recognized mental disability to be a problem in society, therefore he decided that the Federal Government would begin exploring the issue. 

The focus of the Federal Government on mental disability worked perfectly in tandem with the search for a test for PKU, an inborn error of metabolism, which is shown to affect cognition and the mind.  Robert Warner, MD, of the Children’s Rehabilitation Center was already working in the area of PKU testing.  He recognized the need for a test.  He met with Robert Guthrie and challenged him to develop a test for newborns.  Guthrie’s son suffered from developmental delays, therefore he had a special place in his heart for this work.  They knew that developmental delays could be avoided by detection of PKU in the early days of life with the immediate implementation of a modified diet beginning during the first days of life.  

Within three days of the challenge by Warner to Guthrie, Guthrie had developed a test, the “Guthrie” or newborn dried blood spot test.  Guthrie was dubbed the “Father of Newborn Screening”.  He had changed the course of history.  By the late 1960’s, newborn screening for rare genetic diseases had become a permanent part of infant care in the United States.  

Today, newborn screening is a state public health activity.  Each state in the United States is responsible for designing and implementing its own newborn screening system.  This results in states having different proceeders for how babies’ blood gets collected and transported from hospitals to state labs, different testing methods and turnaround times, and different approaches for interpreting results, including setting cut-offs.  

The Federal Government also plays a role in newborn screening.  It has focused on areas of improvement in newborn screening, and offers recommendations to the states in an effort to create consistency among the states, and improve deficiencies in the programs.  The Federal Government also awards grants to improve the ability of the states to provide for newborn screening.  Timeliness is a goal originally identified by the Department of Health and Human Services Advisory Committee on Heritable Disorders (“Advisory Committee”).  Originally identified as a need in 2005, concerns about the timeliness of screening date back to at least 2013.  Because of this, time-frame goals were incorporated in the Newborn Saves Life Reauthorization Act of 2014.  In 2014, the Advisory Committee also established the RUSP, which is a list of disorders that are recommended by the Department of Health and Human Services for states to screen for at birth as part of their state universal newborn screening programs.  16 of the 32 conditions on the RUSP were designated “time-critical”.  By 2017, the goal of the Advisory Committee is that states report results for ninety-five percent of specimens with presumptive positive results for time-critical conditions within five days of birth.   

This means that the Federal Government recommendation to our states is that newborn screening results be delivered to our families by the fifth day of our child’s life.  


Sam Crowe, Ph.D., A Brief History of Newborn Screening in the United States.  Staff Discussion Paper from the President’s Council on Bioethics, March 2008.  


Report on the Task Force on Law, The President’s Panel on Mental Retardation, January 1963.

Newborn Screening Timeliness: Most States Had Not Met Screening Goals, but Some Are Developing Strategies to Address Barriers, United States Government Accountability Office, Report to Congressional Committees, December 2016, GAO-17-196.

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