Early Check: The First 5 Years

Vollständiger Abstract

Worum geht es in dieser Arbeit?

Evidence of net benefit and feasibility of implementation is necessary for a health condition to become part of routine newborn screening. But acquiring data to support informed decision-making is difficult without a nimble and coordinated research capacity grounded in public health practice, a problem exacerbated in the case of rare disorders. To address this concern, we built and implemented Early Check to test the feasibility of a research resource that could adapt to changing needs for data. During the first 5 years, we (1) built a partnership among an independent scientific research institute, 2 universities, and the North Carolina State Laboratory of Public Health; (2) developed and evaluated low-touch statewide recruitment approaches and an online consent that met all institutional review board requirements; (3) selected 3 prototypic health conditions to test the system; (4) enrolled and screened nearly 27 000 newborns; and (5) identified 105 screen-positive participants for whom we provided counseling, diagnostic testing, and referral to specialized long-term clinical care for infants with confirmed diagnoses. After this initial phase, we used the same infrastructure to offer whole-genome sequencing at birth for more than 200 disorders. Lessons learned from Early Check and other similar projects will hopefully inform future efforts to build national capacity for newborn screening research.