Approximately 24-48 hours after birth, an infant will undergo testing called newborn screening (NBS), where a blood sample is collected through a heel prick. The sample is then sent to a laboratory for testing where several biochemical tests are performed to look for a select number of serious, inherited metabolic conditions. Early detection and treatment are pivotal in management of these diseases, and if caught the child usually develops normally and lives a healthy life. Unfortunately, if these conditions are not recognized within a very sensitive time window, it could be too late. Once symptoms appear, they are often irreversible and lead to severe health problems or even death. With early detection, physicians and parents have the opportunity to be proactive and change a child’s life forever.
Biochemical testing, while a good place to start, may not be the best solution. In biochemical testing, the levels of different biochemicals and other components of the newborn’s metabolism are determined from the blood sample. The results of such biochemical testing are greatly affected by, the time of sampling, current health of the newborn, medications administered to the infant or the mother, technique of sample collection, and most importantly, the lack of standardized parameters. At PHIX, our goal is to save lives by providing parents, health care providers, and public health departments a more standardized approach to NBS, one that screens for more conditions, is more responsive to current and future needs, and provides more actionable information. With a standardized approach and earlier detection, we can substantially improve the quality of life of an affected child and avoid the suffering associated with the ill-effects of these genetic conditions.