Applications of Dried Blood Spots in Newborn and Metabolic Screening

The collection and transport of blood specimens on filter paper by newborn screening programs represents the most significant application of dried blood spots from both current and historical perspectives. The first use of dried blood spot technology, pioneered in the early 1960s by Dr. Robert Guthrie for a single metabolic disease, enabled the establishment of population-based newborn screening throughout the world. Newborn screening is one of the ten of the most important achievements in public health. New sample handling methods and analytical technologies were developed as a result of the dried blood spot. Aspects such as the methods of collection, impact of hematocrit, and volume of blood, have been studied and characterized during the last 50 years of dried blood spot use by newborn screening laboratories and clinical/pharmaceutical laboratories. These issues continue to be addressed in an attempt to expand the use of dried blood spots for pharmaceutical and clinical applications. In addition to the benefits of detecting presymptomatic patients with congenital metabolic disorders, the unique aspects of the dried blood spot and its advantages in medicine are enabling their use in other scientific areas such as pharmacology and toxicology. The lessons learned from the use of dried blood spots in newborn screening can serve as a model for other applications, including metabolic status screening and patient disease monitoring.