Johnson Faye, Southern Kevin W, Ulph Fiona
Division of Psychology & Mental Health, School of Health Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester Academic Health Science Centre, Oxford Road, Manchester M13 9PL, UK.
Institute of Translational Medicine, University of Liverpool, Liverpool L12 2AP, UK.
Int J Neonatal Screen. 2019 Jun 11;5(2):23. doi: 10.3390/ijns5020023. eCollection 2019 Jun.
Genetic results of uncertain clinical significance are being returned to parents following newborn screening, representing a paradigm change in how society considers health and illness. 'Cystic Fibrosis screen positive, inconclusive diagnosis' (CFSPID) is a designation given to newborns with a positive screening result for, but not a definitive diagnosis of, cystic fibrosis. We explored the psychological impact of receiving a CFSPID result on parents. Five semi-structured interviews were conducted with eight parents whose children have CFSPID. Interpretative phenomenological analysis identified these themes: "The way we were told": 'diagnosis as a traumatic event' focused on how parents were distressed and dissatisfied by the initial screening result communication, 'Facing and challenging traditional ideas about health and illness' explored the emerging problem of how CFSPID does not fit the commonly accepted medical model, and 'Making certainty out of uncertainty' explored the varying strategies parents developed to adapt to the uncertainty regarding their child's prognosis. Findings suggest that CFSPID results caused parents' distress, initiated with the first communication of the result and persisting thereafter. Our data suggests approaches to the delivery of CFSPID results that may reduce the impact. Work is needed to close the gap between healthcare advances and societies commonly held medical model.
新生儿筛查后，具有不确定临床意义的基因检测结果被反馈给家长，这代表了社会看待健康与疾病方式的一种范式转变。“囊性纤维化筛查呈阳性，诊断不明确”（CFSPID）是指那些囊性纤维化筛查结果呈阳性但尚未确诊的新生儿。我们探讨了收到CFSPID结果对家长的心理影响。对8名孩子患有CFSPID的家长进行了5次半结构化访谈。诠释现象学分析确定了以下主题：“告知我们的方式”：“将诊断视为创伤性事件”关注家长如何因最初的筛查结果告知而感到痛苦和不满，“面对并挑战关于健康与疾病的传统观念”探讨了CFSPID如何不符合普遍接受的医学模式这一新出现的问题，“从不确定性中找到确定性”探讨了家长为适应孩子预后的不确定性而制定的各种策略。研究结果表明，CFSPID结果导致家长痛苦，从结果首次告知开始并持续存在。我们的数据表明了提供CFSPID结果的方法，这些方法可能会减少影响。需要努力弥合医疗进步与社会普遍持有的医学模式之间的差距。
