Department of Pathology and Laboratory Medicine, Center for Neurodegenerative Disease Research, University of Pennsylvania, Philadelphia, Pennsylvania, USA.
Genet Med. 2012 Oct;14(10):844-51. doi: 10.1038/gim.2012.63. Epub 2012 May 31.
Gaucher disease carrier screening is controversial in the medical community. The goal of this study was to explore current Gaucher disease carrier screening practices of prenatal healthcare providers.
Prenatal healthcare providers were invited by email to complete an electronic-based survey.
A total of 1,454 prenatal healthcare providers, including 209 genetic counselors, 450 midwives, and 795 physicians, completed the study. The majority of genetic counselors (n = 208/209, >99%), physicians (n = 415/450, 92%), and midwives (n = 634/795, 80%) currently offer Jewish ancestry disease carrier screening to couples in whom one or both partners are Jewish. Of providers who offer Jewish ancestry disease screening, the majority of genetic counselors (n = 199/208, 96%) and physicians (n = 352/415, 85%) always or sometimes offer Gaucher disease screening whereas the majority of midwives (n = 357/634, 56%) never offer Gaucher disease screening.
This study presents the first report of Gaucher disease carrier screening practices of the prenatal healthcare providers in North America. Our results indicate that Gaucher disease carrier screening is being offered at a high rate within the scope of Jewish ancestry-based carrier screening. This may highlight a need to move away from the debate as to whether Gaucher disease carrier screening should be offered and, instead, focus on how best to provide Gaucher disease carrier screening services.
戈谢病携带者筛查在医学领域存在争议。本研究的目的是探讨产前保健提供者目前的戈谢病携带者筛查实践。
通过电子邮件邀请产前保健提供者完成基于电子的调查。
共有 1454 名产前保健提供者，包括 209 名遗传咨询师、450 名助产士和 795 名医生，完成了这项研究。大多数遗传咨询师（n=208/209，>99%）、医生（n=415/450，92%）和助产士（n=634/795，80%）目前为一方或双方为犹太裔的夫妇提供犹太裔疾病携带者筛查。在提供犹太裔疾病筛查的提供者中，大多数遗传咨询师（n=199/208，96%）和医生（n=352/415，85%）总是或有时提供戈谢病筛查，而大多数助产士（n=357/634，56%）从不提供戈谢病筛查。
本研究首次报告了北美的产前保健提供者进行戈谢病携带者筛查的实践。我们的结果表明，在基于犹太裔的携带者筛查范围内，戈谢病携带者筛查的提供率很高。这可能突出表明需要摆脱是否应该提供戈谢病携带者筛查的争论，而应专注于如何最好地提供戈谢病携带者筛查服务。
