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. Our objective was to evaluate the quality of metabolic team specialty services for children with IBEM; identify strategies to ensure coordinated and comprehensive care for children with IBEM; improve metabolic specialty care and connection to services for children with IBEM and their families; and gather data to inform newborn screening programming through the Minnesota Department of Health. Responses revealed a high level of overall satisfaction with the referral processes, 2) the quality of verbal communications and written reports, 3) feedback to the primary care team and 4) the management plans for addressing the needs of children with IBEM within the primary care setting. Improvement in communication about emergency planning for children with IBEM is clinics as a result of the survey findings.

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. A study protocol and data abstraction form were developed and IRB approvals obtained. Data from three state NDBS programs on a total of 151 patients indicated that genetic services are documented systematically only by metabolic clinics, most often by genetic counselors. Data from 69 endocrinology patients indicated infrequent referrals for genetic services; as expected higher for congenital adrenal hyperplasia than congenital hypothyroidism. Endocrinology patients were often counseled by physicians. While systematic tracking of genetic counseling services may be desirable for quality assurance of NDBS follow-up services, current systems do not appear conducive to this practice. Clinical records are not typically shared with NDBS programs and tracking of follow-up clinical genetic services has not been generally defined as a NDBS program responsibility. Rather, tracking of clinical services, while recognized as useful data, has been viewed by NDBS programs as a research project. The associated IRB requirements for patient-related research may pose an additional challenge. National guidance for NDBS programs that define quality genetic service indicators and monitoring responsibilities are needed. US experiences in this regard may provide information that can assist developing programs in avoiding tracking issues.