The Path to Screening US Newborns for Severe Combined Immunodeficiency, 1968–2018: A Narrative Review of a Successful Biomedical Research and Public Health Partnership

Background: Newborn screening for severe combined immunodeficiency (SCID) represents an important advancement in public health genomics as the first DNA-based primary screening test in newborn screening programs. The story of how this process took place in the United States during the first two decades of the current century can provide useful lessons for the fields of newborn screening and public health genomics. Summary: Newborn screening for SCID was officially recommended at the national level in the USA in 2010 and fully implemented by 2018. It was preceded by the development and evaluation of treatments administered to infants with SCID at varying ages. Evidence of better outcomes with early treatment by hematopoietic stem cell transplantation published beginning in 1998 led to the exploration of practical screening assays beginning in 2001, followed by pilot screening studies conducted beginning in 2008, and full implementation in US screening programs between 2010 and 2018. Technical, logistical, and funding challenges in implementing the needed genomic technologies in public health programs were met through creative partnerships. Key messages: The development of newborn screening for new rare disorders can require multiple years of painstaking research and implementation science. Support and cooperation among patient advocacy groups, clinical experts, public health researchers, and government agencies are essential for the successful roll out of new newborn screening tests and follow-up protocols.