Tracking clinical genetic services for newborns identified through newborn dried bloodspot screening in the United States—lessons learned
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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.
KeywordsNewborn dried bloodspot screening Follow-up Genetic services Genetic counseling IRB
This project was supported through a cooperative agreement between the Maternal and Child Health Bureau, Genetic Services Branch and the University of Texas Health Science Center at San Antonio, Department of Pediatrics, HRSA Grant #U32MC00148. Opinions stated herein are those of the authors and not necessarily of the Health Resources and Services Administration or Department of Health and Human Services.
The authors would like to express appreciation to the following individuals who were also associated with the project for their contributions: Susan A. Berry, MD, University of Minnesota Amplatz Children’s Hospital; Krista Redlinger-Grosse, CGC, University of Minnesota Amplatz Children’s Hospital; Gary S. Gottesman, MD, Saint Louis University School of Medicine; Mark McCann, MS, Minnesota Department of Health; Chanika Phornphutkul, MD, Rhode Island Hospital; Julie Raburn-Miller, Missouri Department of Health and Senior Services and Kristi Zonno, MS, CGC.
Financial relationship disclosure
The authors have no commercial association that might pose or create a conflict of interest with the information presented in this manuscript, neither consultancies, stock ownership, or other equity interests, patent licensing arrangements, payments for conducting or publicizing a study described in the manuscript.
This project was supported through a cooperative agreement between the Maternal and Child Health Bureau, Genetic Services Branch and the University of Texas Health Science Center at San Antonio, Department of Pediatrics, HRSA Grant #U32MC00148.
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