Clinical Trial: The Early History of Universal Screening for Metabolic Disorders

Study Status: Completed
Recruit Status: Completed
Study Type: Observational

Official Title: The Early History of Universal Screening for Metabolic Disorders

Brief Summary: We are doing this study to learn more about the early history of universal screening for metabolic disorders such as PKU and galactosemia. In particular, we are interested in learning from our past experience to inform our current plans to expand universal newborn screening. Following standard historical research methodology, we will begin with a review of the historical scholarship on PKU and galactosemia, including more general works on mental retardation, genetics, public health screening, and metabolic disorders. We will also obtain scientific publications and archival sources on the early screening and treatment of these disorders. Lastly, we will conduct oral history interviews with key participants in teh early screening and treatment of PKU and galactosemia.

Detailed Summary:

Universal neonatal screening programs for metabolic disorders constitute a triumph of medicine and public policy in the US over the last 50 years. State programs to identify and treat disorders such as and galactosemia have saved thousands of lives and prevented serious morbidity such hypothyroidism, phenylketonuria (PKU), as mental retardation . Advances in science and technology, including the Human Genome Project, offer the opportunity to expand universal newborn screening programs to include many new conditions. Although the benefits of such screening programs appear to outweigh their costs, some critics have pointed to historical examples that should make us wary of expanding universal newborn screening. For example, ethicist Norm Fost has stated that early screening programs falsely identified hundreds of children as having PKU or galactosemia, and that inappropriate treatment of these children led to death or severe neurodevelopmental impairment . As our nation weighs the risks and benefits of expanding newborn screening to a variety of metabolic and genetic conditions, it is critical to revisit the early years of universal screening programs. Did the extension of screening from at-risk populations to all newborns lead to substantial morbidity and mortality? If so, what can we learn from our past experience to inform our current plans to expand universal newborn screening?

We propose to examine the early history of universal screening for PKU and galactosemia in the US. Following standard historical research methodology, we will begin with a review of the historical scholarship on PKU and galactosemia, including more general works on mental retardation, genetics, public health screening, and metabolic disorders. We will also identify and obtain scientific publications and archival sources that document the early screening and treatment of these disorders. Lastly, w
Sponsor: University of Miami

Current Primary Outcome: Historical report of PKU false positive morbidity/morality [ Time Frame: After newborn screening began (1960) ]

Original Primary Outcome:

Current Secondary Outcome:

Original Secondary Outcome:

Information By: University of Miami

Dates:
Date Received: March 30, 2006
Date Started: January 2006
Date Completion:
Last Updated: August 19, 2014
Last Verified: August 2014