Newborn screening is recognized as an essential, preventive public health program for early identification of disorders in newborns. Screening programs began with one man, Dr. Robert Guthrie, who in the 1960’s developed a screening test for phenylketonuria (PKU), the first disorder for which newborns were routinely screened. In 2008, Congress passed the first Newborn Screening Saves Lives Act to establish national newborn screening guidelines and facilitate comprehensive newborn screening in every state. Prior to 2008, only 15 states and Washington D.C. required newborns to be screened for 29 core conditions. Since that first law, more enhancements have been passed and today, 49 states and Washington D.C. screen for at least 31 of the 35 currently recommended core conditions.
With just one simple blood test, we can identify and intervene against life-threatening genetic diseases that affect approximately 12,000 newborns each year. Early detection allows us to act and treat quickly, reducing the financial and physical burden on families, but more importantly, the emotional toll for parents who otherwise would be caught off guard by their infant’s unexpected symptoms and at risk of losing precious time while they seek a diagnosis.
Today, Congress is once again considering changes to the Newborn Screening Saves Lives Act that will give more families opportunities to detect and treat genetic diseases. Among other amendments, the bill seeks to fill the void of parental education, providing new programs at appropriate literacy levels to educate families about newborn screening counseling, testing, follow-up, treatments and long-term care. The legislation would also require the development of new tools for data analysis and test result interpretation, as well as improved data collection standards, monitoring and sharing between states to help families connect with the best services and treatments possible, regardless of zip code.
As our ability to save more lives increases, so must our ability to support it with our healthcare infrastructure. At the 2019 BIO International Convention, experts will explore the topic of new hope and new challenges for newborn screening in the genetic era, including everything from the promise of new therapies, to gaps in education and shortage of geneticists. There is no question that expanded genetic testing will lead to more hope and longer, healthier lives for our most vulnerable, but we must band together as a biotechnology community to help ensure necessary changes are made so all families can realize the promise and potential of detecting disease, particularly rare disease, earlier than ever before.