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

Abstract

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 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.

An Exploration of Genetic Test Utilization, Genetic Counseling, and Consanguinity within the Inborn Errors of Metabolism Collaborative (IBEMC)

“…Genetic counseling is essential for family understanding, knowledge, satisfaction, and compliance (Bjorvatn et al, 2007; Rutherford, Zhang, Atzinger, Ruschman, & Myers, 2014). Similar rates of genetic counseling were found by Livingston et al in 2011 when they studied rates of genetic counseling for metabolic disorders tracked by newborn screening programs in Minnesota, Missouri, and Rhode Island (Livingston et al, 2011). This is in stark contrast to recent data reported from the ABOUT study where this group investigated the rate of genetic counseling for women undergoing BRCA genetic testing, and found that only 36.8% of received genetic counseling (Armstrong et al, 2015).…”

“…This is in stark contrast to recent data reported from the ABOUT study where this group investigated the rate of genetic counseling for women undergoing BRCA genetic testing, and found that only 36.8% of received genetic counseling (Armstrong et al, 2015). Evidence suggests that genetic counseling is provided more frequently in clinics providing care for inherited metabolic conditions than in other fields of genetics (Hinton et al, 2014; Livingston et al, 2011). This may be because patients with rare inherited metabolic disorders are seen regularly by specialist providers for routine follow-up, often at academic medical centers, while other genetic testing (e.g.…”

Developing a public health-tracking system for follow-up of newborn screening metabolic conditions: a four-state pilot project structure and initial findings

“…Moreover, for families of newborns identified through the respective state's dried blood spot screening, there are limited published reports about the numbers of encounters with genetic service providers. 22 …”

Newborn screening data management: proposing a framework for Iran

“…reported that the Ministry of Health, laboratories, hospitals, health houses, legislator organisations and insurance companies should be involved in the process of newborn screening. In another study, Livingston et al 43. noted that data obtained from tracking newborn clinical genetic services are important for improving newborn screening programmes, and cooperation between genetic services and organisations which are responsible for implementing newborn screening programmes is necessary.…”