Vansenne Fleur, de Borgie Corianne A J M, Legdeur Monica, Spauwen Marjo Oey, Peters Marjolein
Department of Clinical Epidemiology, Biostatistics and Bioinformatics, University of Amsterdam, Amsterdam, The Netherlands.
Genet Test Mol Biomarkers. 2011 Oct;15(10):671-5. doi: 10.1089/gtmb.2010.0232. Epub 2011 May 16.
In 2007, the neonatal screening program in the Netherlands was expanded to include hemoglobinopathies. Newborns with sickle cell disease (SCD), as well as SCD carriers are identified. The benefit of reporting SCD carriers includes detection of more couples at risk (both parents are carriers) who can be informed about future reproductive choices, a responsibility of their general practitioner (GP). We evaluated knowledge, ideas, and actions of GPs after reporting SCD carriers and explored and analyzed potential barriers.
A questionnaire study.
A total of 139 GPs responded to our questionnaire (49%). Ninety GPs (90%) stated they informed parents of the test result. In only 23 cases (23%) both parents had themselves tested for hemoglobinopathies. Eighty-one GPs (64%) stated that they did not have enough clinical experience with SCD. Almost half of the GPs indicated that they did not experience any barriers in counseling patients (n=60, 48%).
At the moment, the goal of the neonatal screening for SCD carriers has not been achieved as the majority of parents were not tested for hemoglobinopathies after disclosure of carrier status in their newborn. With GPs reporting few barriers in counseling parents and only indicating a lack of knowledge and clinical experience, more effort is required to provide better information to GPs to help facilitate their work.
2007年，荷兰的新生儿筛查项目扩大到包括血红蛋白病。镰状细胞病（SCD）新生儿以及SCD携带者得以被识别。报告SCD携带者的益处包括发现更多有风险的夫妇（父母双方均为携带者），这些夫妇可被告知未来的生育选择，这是他们的全科医生（GP）的一项职责。我们评估了全科医生报告SCD携带者后的知识、想法和行动，并探讨和分析了潜在障碍。
一项问卷调查研究。
共有139名全科医生回复了我们的问卷（回复率49%）。90名全科医生（90%）表示他们告知了父母检测结果。只有23例（23%）父母双方都进行了血红蛋白病检测。81名全科医生（64%）表示他们对SCD没有足够的临床经验。几乎一半的全科医生表示他们在为患者提供咨询时没有遇到任何障碍（n = 60，48%）。
目前，SCD携带者新生儿筛查的目标尚未实现，因为在告知其新生儿携带者状态后，大多数父母并未进行血红蛋白病检测。由于全科医生表示在为父母提供咨询时障碍很少，只是表明缺乏知识和临床经验，因此需要做出更多努力，为全科医生提供更好的信息，以帮助促进他们的工作。
