Early Check: A Voluntary Newborn Screening Program and Research Registry to Facilitate Clinical Trials in Pre-Symptomatic Infants with Rare Diseases

Newborn screening (NBS) is designed for pre-symptomatic identification of conditions for which there are effective treatments that must begin early. Central to NBS policy is evidence that pre-symptomatic treatment is more effective than treatment after symptoms appear. Unfortunately, such evidence is difficult to amass because most conditions are rare and not diagnosed or treated early. Researchers and advocates thus find themselves in a classic “Catch 22” situation—NBS for a condition will not happen without sufficient evidence, but gathering this evidence requires large-scale population screening. This causes a formidable barrier to translational research. The purpose of this session will be to describe a statewide, voluntary NBS program in North Carolina which will screen for spinal muscular atrophy and fragile x syndrome. Our goal is to offer voluntary screening to all 120,000 families who give birth in North Carolina each year, starting in 2018. Parents may give permission for participation either before their child’s birth or up to one month after birth. Permission will be obtained through an online electronic module. An extra sample of blood will be taken on the standard NBS card and sent to the North Carolina State Laboratory of Public Health for screening. Upon a positive screen, families will be contacted and diagnostic testing will be conducted. Confirmed cases will be provided genetic counseling and baseline medical and developmental assessments will be conducted. Families will be asked to join the research registry which will be used to facilitate access to clinical trials and other treatment options and to recruit for natural history studies. Our ultimate goal is to create a sustainable infrastructure, available to other researchers, in which voluntary NBS screening is offered in a way that benefits children, supports families, provides early access to treatment options, and generates evidence that contributes to rational policy decisions.