Genetic Counseling

School of Health and Human Sciences

Pediatric Perspective: Genome Sequencing for Newborn Screening
Capstone Project Committee: Katherine Foreman, MS, CGC, Julianne O’Daniel, MS, CGC, Randi Stewart, MS, CGC
Research investigating the application of whole genome sequencing (WGS) to newborn screening (NBS) is ongoing, but there is debate surrounding how this technology should be implemented into NBS practice. Pediatric providers are involved in follow-up of abnormal NBS results, and yet their opinions on WGS and NBS are underrepresented. This exploratory study aims to address the gap in knowledge related to pediatric providers’ views on WGS in the newborn period. Paper and electronic surveys were distributed to pediatric providers in North Carolina at in-person staff meetings, via institution specific pediatric provider listservs and the North Carolina Pediatric Society listserv which yielded 34 completed surveys, two of which were excluded from data analysis (N = 32). Eighty-one percent of respondents felt that WGS should not be mandatory in current NBS practice. Respondents reported that primary care providers should be involved in return of results from WGS in NBS, yet several expressed a need for provider education. Pediatric providers raised concerns over the logistical, ethical, and social challenges surrounding implementation of genome sequencing in NBS. The majority of participants agreed that the current ACMG criteria for selecting conditions for NBS should be applied in the context of WGS for NBS. This study is one of the first to investigate the views of pediatric providers regarding WGS of newborns in the setting of NBS, providing insight into perspectives of these important stakeholders.
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