September is Newborn Screening Awareness Month
In 1963, as a result of a discovery by Dr. Robert Guthrie, newborns could finally be screened and receive treatment for a disease before symptoms appeared. Dr. Guthrie and his colleague published a paper outlining their discovery—A Simple Phenylalanine Method for Detecting Phenylketonuria in Large Populations of Newborn Infants. Phenylketonuria, or PKU, causes severe intellectual and developmental disabilities, but by the time a baby shows the first symptoms, it can be too late to prevent these problems. Guthrie’s simple, inexpensive test was able to detect PKU within the first few days of a newborn’s life.
Following Guthrie’s discovery, Massachusetts became the first state to pass a law requiring the Guthrie PKU screening test for all infants born in the state.
At present, newborns in most states are screened for at least 29 conditions within the first few days after birth, with ten states testing for 50 or more conditions. Because of newborn screening, approximately 1 in 300 babies born each year are diagnosed with a treatable condition. The United States newborn screening program—which has improved and saved countless lives—celebrates its 60th anniversary in 2023.
The 2023 APHL/ISNS Newborn Screening Symposium will take place from October 15–19, 2023 in Sacramento, California, and will emphasize newborn screening practices and goals shared by partners throughout the world. This international meeting held by the Association for Public Health Laboratories (APHL) and The International Society for Neonatal Screening (ISNS) will take place in hybrid format, with sessions taking place in Sacramento and being live-streamed and recorded for those unable to attend in person. The symposium will address state, national, and international newborn screening, genetic testing, and policy issues important to public health newborn screening systems. Topics will include:
- Molecular technologies.
- Current and upcoming conditions.
- Quality improvement.
- Communicating with families and the public.
- Short- and long-term follow-up.
CLSI’s newborn screening laboratory standards help health care providers and laboratorians perform accurate newborn screening testing that helps save lives. Access the full library here.