Implementation of newborn screening has affected the lives of thousands of children. Forty metabolic diseases can now be detected at birth; with appropriate treatment, these children can lead a longer and better life. With recent advances based on world-wide data sets, results interpretation has improved significantly. Future research leading to better outcomes will require well thought out strategies to guide selection of assessment tools and target audiences. Hear a patient describe how newborn screening affected her life, and a leading scientist describe the future of newborn screening.