Reducing the psychosocial impact of a false positive newborn screen for inborn errors of metabolism

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Dinchong, Rachelle
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Newborn screening (NBS) is standard practice for neonatal care in Canada and screens for over 20 inborn errors of metabolism (IEM). Education about NBS is meant to mitigate parental anxiety following an initial positive screen and reduce the inappropriate medicalization of children after a false positive result. Parents of 482 children who had NBS done by Cadham Provincial Laboratory in Winnipeg, MB between 2011-2017 and who screened positive for an IEM were invited to participate in an online survey and follow-up interview. Although only 21 online survey responses were completed (5.06% response rate), these data allowed for a more detailed understanding of the demographic characteristics of the interviewed sample. Eleven respondents completed semi-structured telephone interviews designed to identify how communication of a positive result and educational resources can be improved; explore how parents are accessing educational information about IEMs after being notified of their result; and determine when in the NBS process parents feel that they will benefit most from these educational messages. Overall, participants felt that clinicians downplayed the significance of their result and provided them with limited information about the IEM. Immediately after being notified, parents sought information online as a source of comfort and wanted to learn more about the likelihood of a false positive result, follow-up process, prognosis of the IEM, and management guidelines. In hindsight, parents felt unaware of the potential outcomes of NBS because of a lack of education about the program prior to being notified of their result. Additionally, parents indicated that their local healthcare providers, emergency departments, and medical laboratories had inadequate knowledge about NBS that led to multiple redraws and unnecessary challenges in follow-up. Based on interpretive description, evidence-based strategies for improving the experience of a positive NBS result for IEMs are described.
newborn screening, inborn errors of metabolism, psychosocial, genetic counselling