The quality of metabolic newborn screening specialty care services: results of a survey of primary care providers.

Since 2001, approximately 500 children with inborn errors of metabolism (IBEM) have been identified through the Minnesota newborn screening program. The vast majority of them receive specialty care at the Pediatric Metabolism Clinic or the Phenylketonuria (PKU) Clinic at the University of Minnesota. In order to determine provider satisfaction with the quality of services at those clinics, we surveyed primary care physicians, certified nurse practitioners and a certified physician assistant, collectively referred to in this article as primary care providers, who referred patients with IBEM to one of the clinics.

Tracking clinical genetic services for newborns identified through newborn dried bloodspot screening in the United States-lessons learned.

To determine how US newborn dried bloodspot screening (NDBS) programs obtain patient-level data on clinical genetic counseling services offered to families of newborns identified through newborn NDBS and the extent to which newborns and their families receive these services. These data should serve to inform programs and lead to improved NDBS follow-up services. Collaborations were established with three state NDBS programs that reported systematically tracking genetic counseling services to newborns and their families identified through NDBS.