Haitjema Sietske, Lubout Charlotte M A, Zijlstra Justine H M, Verschoof-Puite Rendelien K, van Spronsen Francjan J
Department of Metabolic Diseases, Beatrix Children's Hospital, University Medical Center Groningen, University of Groningen, 9700 RB Groningen, The Netherlands.
Department of Vaccine Supply and Prevention Programmes, National Institute for Public Health and the Environment (RIVM), 3720 BA Bilthoven, The Netherlands.
Int J Neonatal Screen. 2025 Aug 8;11(3):62. doi: 10.3390/ijns11030062.
Newborn screening (NBS) for inherited metabolic diseases (IMD) aims to find children in which immediate action can prevent severe symptoms. We previously studied parental satisfaction with the communication of the NBS result for phenylketonuria, which in the Netherlands is done by the general practitioners (GPs). More than half of all parents were unsatisfied with the communication of the abnormal NBS result. The aim of this qualitative exploratory study was to portray a number of GPs' opinions and experiences in communicating an abnormal metabolic NBS result. We performed semi-structured interviews with ten GPs to evaluate the process of communicating the abnormal NBS result. An additional two GPs provided their answers via email. The data revealed four key themes: (1) dealing with the urgency of the metabolic NBS result, (2) the role of the GP in the NBS process, (3) the current organization of NBS in the Netherlands and (4) evaluating roles and responsibilities in communicating abnormal metabolic NBS results. Despite the willingness of GPs to inform parents about NBS results, it is questionable whether they have the necessary tools to effectively conduct these conversations given their limited experience with IMDs. In light of the increasing number of diseases in the NBS program, it would be interesting to explore alternative tools for communicating the NBS result to parents.
针对遗传性代谢疾病（IMD）的新生儿筛查（NBS）旨在找出那些可通过立即采取行动预防严重症状的儿童。我们之前研究了父母对苯丙酮尿症新生儿筛查结果沟通情况的满意度，在荷兰，这一工作由全科医生（GPs）负责。超过半数的父母对异常新生儿筛查结果的沟通情况不满意。这项定性探索性研究的目的是描绘一些全科医生在传达异常代谢性新生儿筛查结果方面的意见和经验。我们对十位全科医生进行了半结构化访谈，以评估传达异常新生儿筛查结果的过程。另外两位全科医生通过电子邮件提供了他们的答案。数据揭示了四个关键主题：（1）处理代谢性新生儿筛查结果的紧迫性，（2）全科医生在新生儿筛查过程中的作用，（3）荷兰目前的新生儿筛查组织情况，以及（4）评估在传达异常代谢性新生儿筛查结果中的角色和责任。尽管全科医生愿意告知父母新生儿筛查结果，但鉴于他们对遗传性代谢疾病的经验有限，他们是否拥有有效进行这些沟通的必要工具仍值得怀疑。鉴于新生儿筛查项目中的疾病数量不断增加，探索向父母传达新生儿筛查结果的替代工具将是很有意思的。
