Introduction to Genetic, Endocrine, and Metabolic Testing Program for Newborns
The Human Genetics Division at Cincinnati Children's Hospital Medical Center provides comprehensive an introduction to the Genetic, Endocrine and Metabolic Testing Program for Newborns:
Population based screening of all newborns began in Ohio in 1965 with the introduction of phenylketonuria (PKU) testing using a method devised and championed by Dr. Robert Guthrie. Since 1965, over 6 million infants in Ohio have been screened for PKU, and about 400 babies have been identified and treated.
A formula program, partially subsidized by newborn screening fees, helps supply special purpose medical food designed for the treatment of PKU to 250 patients, who range in age from newborn to adult. Many of the adults identified in the early years of the program have grown up to be productive citizens, a testament to the success of newborn screening in the prevention of mental retardation.
Ohio currently mandates testing of all newborns for 12 conditions and will soon add an additional 16 disorders through its voluntary screening program. This massive expansion of the screening program is possible partly because of a technology known as mass spectrometry, which allows a single test to screen for multiple conditions. However, technology represents only a portion of a newborn screening program. Unless every infant is tested, and every infant identified to be at higher risk is tracked, retested, and if necessary, enrolled in a treatment program, this technology will not be able to do its job, which is to help babies with rare conditions receive the help they need.
The goal of this web-based module is to provide materials for education of health care providers regarding the initiation and follow up stages of the screening program. Specific information about each condition is provided in brief summaries, and links to additional information are provided.
In searching for such information, it became evident that concise and practical information sources were difficult to find in journals, textbooks, and on the Web. Where possible, consensus statements and guidelines were used. Specific patient oriented information, in English and in other languages, is available for only a few conditions, but links to available sources are provided.
Similar to the program itself, this resource is a work in progress, and will be continuously updated as new information and needs come to light.
This is not meant to be a comprehensive summary of all newborn screening programs. Some points, especially those concerning legal mandates and processes, are quite specific to Ohio. However, just as we found useful information in other state Web sites, we hope that some of this information will prove helpful to others.
