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Mike, a memorable young patient with untreated phenylketonuria, as well as others affected by genetic disorders that could be treated if diagnosed in infancy, launched my six-decade career. This autobiographical article reflects on my childhood, early research, and professional experiences in pediatric genetics. My laboratory research focused on inborn errors of metabolism, including the glycogen storage diseases. My effort to organize newborn screening through the recommended uniform screening panel shaped and standardized newborn screening nationwide. Looking ahead, the expansion of whole-genome and whole-exome sequencing into newborn screening raises ethical and policy issues regarding informed consent procedures and the storage and use of residual blood spots. [ABSTRACT FROM AUTHOR]

The article provides information on a study conducted by the American College of Medical Genetics, which examined conditions amenable to newborn screening, devised mechanisms for addition conditions to the newborn screening panels and recommended a panel of conditions appropriate for newborn screening. The American College of Medical Genetics conducted the research because of a contract it received from the Health Resources and Services Administrations. The article also presents the concerns about expanded screening. It then looks at some of the infrastructure needed for expanded newborn screening.