作者: Kim C A Holtkamp , Merel C van Maarle , Maria J E Schouten , Wybo J Dondorp , Phillis Lakeman
DOI: 10.1038/EJHG.2015.97
关键词:
摘要: Ancestry-based carrier screening in the Ashkenazi Jewish population entails for specific autosomal recessive founder mutations, which are rarer among general population. As it is now technically feasible to screen many more diseases, question arises whether this prefers a limited ancestry-based offer or pan-ethnic expanded panel that goes beyond diseases frequent their own population, and offered regardless of ancestry. An online questionnaire was completed by 145 individuals from Dutch community (≥18 years) between April July 2014. In total, 64.8% were aware existence screening, respondents generally positive about screening. About half (53.8%) preferred whereas 42.8% Reasons preferring included ‘everyone has right be tested’, ‘fear stigmatization when offering panels’, ‘difficulties with identifying risk owing mixed backgrounds’. ‘Preventing high healthcare costs’ most important reason against those favor an panel. conclusion, these findings show people have attitude regarding wide range diseases. costs panels likely drop near future, expected will receive support future.