Providing Genetic Risk Information to Parents of Newborns with Sickle Cell Trait: Role of the General Practitioner in Neonatal Screening
Providing Genetic Risk Information to Parents of Newborns with Sickle Cell Trait: Role of the General Practitioner in Neonatal Screening
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DOI：
10.1089/gtmb.2010.0232
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发表时间：
2011-10-01
影响因子：
1.4
通讯作者：
Peters, Marjolein
中科院分区：
文献类型：
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作者：
Vansenne, Fleur;de Borgie, Corianne A. J. M.;Peters, Marjolein
目的：2007年，荷兰的新生儿筛查项目扩大到包括血红蛋白病。新生儿镰状细胞病（SCD），以及SCD携带者被确定。报告SCD携带者的好处包括发现更多有风险的夫妇（父母双方都是携带者），他们可以被告知未来的生育选择，这是他们的全科医生（GP）的责任。在报告SCD携带者后，我们评估了全科医生的知识、想法和行动，并探索和分析了潜在的障碍。方法：采用问卷调查法。结果：共有139名全科医生回答了我们的问卷（49%）。90名全科医生（90%）表示他们将测试结果通知了父母。只有23例（23%）父母双方都做过血红蛋白病检测。81名全科医生（64%）表示他们对SCD缺乏足够的临床经验。几乎一半的全科医生表示，他们在咨询患者时没有遇到任何障碍（n = 60, 48%）。结论：目前，新生儿SCD携带者筛查的目标尚未实现，因为大多数父母在披露其新生儿携带情况后未进行血红蛋白病检测。由于全科医生报告在咨询父母方面几乎没有什么障碍，只是表明缺乏知识和临床经验，因此需要更多的努力向全科医生提供更好的信息，以帮助他们促进工作。
Purpose: 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. Methods: A questionnaire study. Results: 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%). Conclusion: 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.