Holtkamp Kim C A, van Maarle Merel C, Schouten Maria J E, Dondorp Wybo J, Lakeman Phillis, Henneman Lidewij
Department of Clinical Genetics, Section of Community Genetics, EMGO Institute for Health and Care Research, VU University Medical Center, Amsterdam, The Netherlands.
Department of Clinical Genetics, Academic Medical Center, Amsterdam, The Netherlands.
Eur J Hum Genet. 2016 Feb;24(2):171-7. doi: 10.1038/ejhg.2015.97. Epub 2015 May 13.
Ancestry-based carrier screening in the Ashkenazi Jewish population entails screening for specific autosomal recessive founder mutations, which are rarer among the general population. As it is now technically feasible to screen for many more diseases, the question arises whether this population prefers a limited ancestry-based offer or a pan-ethnic expanded carrier screening panel that goes beyond the diseases that are frequent in their own population, and is offered regardless of ancestry. An online questionnaire was completed by 145 individuals from the Dutch Jewish community (≥ 18 years) between April and July 2014. In total, 64.8% were aware of the existence of ancestry-based carrier screening, and respondents were generally positive about screening. About half (53.8%) preferred pan-ethnic expanded carrier screening, whereas 42.8% preferred ancestry-based screening. Reasons for preferring pan-ethnic screening included 'everyone has a right to be tested', 'fear of stigmatization when offering ancestry-based panels', and 'difficulties with identifying risk owing to mixed backgrounds'. 'Preventing high healthcare costs' was the most important reason against pan-ethnic carrier screening among those in favor of an ancestry-based panel. In conclusion, these findings show that people from the Dutch Jewish community have a positive attitude regarding carrier screening in their community for a wide range of diseases. As costs of expanded carrier screening panels are most likely to drop in the near future, it is expected that these panels will receive more support in the future.
在德系犹太人中进行基于血统的携带者筛查，需要筛查特定的常染色体隐性奠基者突变，这些突变在普通人群中较为罕见。由于目前在技术上对更多疾病进行筛查已切实可行，于是出现了这样一个问题：该群体是更倾向于接受有限的基于血统的筛查项目，还是更倾向于接受一个泛种族的、扩展的携带者筛查组合，后者涵盖了其本族人群中不常见的疾病，且不论血统一律提供。2014年4月至7月间，145名来自荷兰犹太社区（年龄≥18岁）的个人完成了一份在线调查问卷。总体而言，64.8%的人知晓基于血统的携带者筛查的存在，且受访者对筛查普遍持积极态度。约一半（53.8%）的人倾向于泛种族的扩展携带者筛查，而42.8%的人倾向于基于血统的筛查。倾向于泛种族筛查的原因包括“每个人都有权接受检测”、“提供基于血统的筛查组合时担心受到污名化”以及“由于背景复杂难以确定风险”。在支持基于血统的筛查组合的人群中，“避免高昂的医疗费用”是反对泛种族携带者筛查的最重要原因。总之，这些研究结果表明，荷兰犹太社区的人们对在其社区内针对多种疾病进行携带者筛查持积极态度。由于扩展携带者筛查组合的成本在不久的将来很可能会下降，预计这些组合在未来将获得更多支持。
