Abstract
A pediatrician’s approach to newborn screening (NBS) impacts patient care. Some physicians have reported not being well prepared to inform families about a positive NBS and recommend further follow-up. The knowledge and approach of categorical pediatric residents (RES) in the United States regarding NBS is not known. They were anonymously surveyed via listserv maintained by American Academy of Pediatrics. A total of 655 responses were analyzed. The mean composite knowledge score (CKS) was 17.7 (SD 1.8), out of maximum 21. Training level (p = 0.001) and completing NICU rotation (p < 0.001) predicted higher CKS. Most RES agreed that NBS is useful and pediatricians play an important role in the NBS process, however, only 62% were comfortable with counseling. Higher level RES were more likely to follow NBS results in clinic (p = 0.0027) and know the contact agency for results (p < 0.001). Most RES wanted more NBS training during residency and were not aware of clinical algorithms like ACTion sheets developed by American College of Medical Genetics. We concluded that although RES have sufficient knowledge about NBS, there is a need for earlier RES education on available tools for NBS to enhance their comfort level and improve practices such as educating parents about the NBS process.
Highlights
Newborn screening (NBS) is the first population-based public screening program for genetic disorders in the United States (US) [1]
Tools such as ACTion sheets or clinical management algorithms for abnormal NBS results developed by the American College of Medical Genetics can be of great benefit [11]
Given the importance of NBS, we explored gaps in US categorical pediatric residents’ (RES) knowledge and any trends in attitudes and practices that need to be addressed to improve their education
Summary
Newborn screening (NBS) is the first population-based public screening program for genetic disorders in the United States (US) [1]. One of the challenges for the NBS program is the limited number of subspecialists available to guide PCPs in the diagnosis and management of these rare conditions [10] In such scenarios, tools such as ACTion sheets or clinical management algorithms for abnormal NBS results developed by the American College of Medical Genetics can be of great benefit [11]. There were four main areas of interest: (1) knowledge about the information needed to send, interpret and analyze NBS; (2) perspectives including comfort level for counseling for positive NBS results; (3) self-reported practices in the settings of continuity clinic, nursery, and neonatal intensive care unit (NICU) as applicable such as discussing the rationale of NBS with parents, informing them of normal results, and following results; (4) awareness of appropriate follow-up for abnormal NBS, ACTion sheets and the contact agency for NBS results
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