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

Judith Livingston, Bradford L. Therrell, Marie Y. Mann, Carolyn Stady Anderson, Katherine Christensen, Jerome L. Gorski, Dorothy K. Grange, Dawn Peck, Margy Roberston, Sharmini Rogers, Maura Taylor, Celia I. Kaye

Research output: Contribution to journalArticle

4 Scopus citations

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 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.

Original languageEnglish
Pages (from-to)191-200
Number of pages10
JournalJournal of Community Genetics
Volume2
Issue number4
DOIs
StatePublished - Dec 1 2011

Keywords

  • Follow-up
  • Genetic counseling
  • Genetic services
  • IRB
  • Newborn dried bloodspot screening

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    Livingston, J., Therrell, B. L., Mann, M. Y., Anderson, C. S., Christensen, K., Gorski, J. L., Grange, D. K., Peck, D., Roberston, M., Rogers, S., Taylor, M., & Kaye, C. I. (2011). Tracking clinical genetic services for newborns identified through newborn dried bloodspot screening in the United States-Lessons learned. Journal of Community Genetics, 2(4), 191-200. https://doi.org/10.1007/s12687-011-0055-z