The Early History of Universal Screening for Metabolic Disorders

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.

Study Overview

• Status: Completed
• Conditions: Phenylketonuria; Inborn Errors of Metabolism; Galactosemia

Detailed Description

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, we will conduct oral history interviews with key participants in the history of early screening and treatment of PKU and galactosemia. Oral history is a critical component of this project, providing information not available in any other format. Through oral history interviews, we hope to identify critical events, key people, and important collateral influencing issues.

The second phase of historical methods requires the scholar to identify key themes based on the historical record, then present preliminary findings to groups of scholars from a variety of disciplines. This academic exchange leads the PI to new resources and to refined key themes. The final phase of historical scholarship is preparation of written conclusions. As a result of this project, a historical article will be written for a peer-reviewed journal accessible to clinicians, researchers, and policy experts who are considering how best to expand universal metabolic screening.

• Study Type: Observational
• Enrollment (Actual): 10

Contacts and Locations

Study Locations

• United States
  • Florida
    • Miami, Florida, United States, 33101
      • University of Miami Mailman Center for Child Development

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: Child; Adult; Older Adult
• Accepts Healthy Volunteers: No
• Genders Eligible for Study: All

• Sampling Method: Non-Probability Sample

Study Population

Physicians and scientists knowledgeable about history of newborn screening

Description

Inclusion Criteria:

• participants in the history of early screening and treatment of PKU and galactosemia

Exclusion Criteria:

• those who decline to be interviewed

Study Plan

How is the study designed?

Design Details

• Time Perspectives: Retrospective

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Historical report of PKU false positive morbidity/morality	This study involved oral history interviews, so outcomes are qualitative	After newborn screening began (1960)

Collaborators and Investigators

• Sponsor: University of Miami
• Collaborators: HRSA/Maternal and Child Health Bureau
• Investigators: Principal Investigator: Jeffrey P Brosco, MD, PhD, University of Miami

Study record dates

Study Major Dates

• Study Start: January 1, 2006
• Primary Completion (Actual): January 1, 2008
• Study Completion (Actual): June 1, 2008

Study Registration Dates

• First Submitted: March 30, 2006
• First Submitted That Met QC Criteria: March 30, 2006
• First Posted (Estimate): March 31, 2006

Study Record Updates

• Last Update Posted (Estimate): August 20, 2014
• Last Update Submitted That Met QC Criteria: August 19, 2014
• Last Verified: August 1, 2014

More Information

Terms related to this study

• Keywords: Treatment; Screening; History; Phenylketonuria; Galactosemia
• Additional Relevant MeSH Terms: Brain Diseases; Central Nervous System Diseases; Nervous System Diseases; Genetic Diseases, Inborn; Carbohydrate Metabolism, Inborn Errors; Brain Diseases, Metabolic; Brain Diseases, Metabolic, Inborn; Amino Acid Metabolism, Inborn Errors; Phenylketonurias; Metabolism, Inborn Errors; Metabolic Diseases; Galactosemias
• Other Study ID Numbers: 20057601