Wellcome Trust Sanger Institute, Hinxton, Cambridge, UK.
Am J Med Genet A. 2013 Aug;161A(8):2099-101. doi: 10.1002/ajmg.a.36067. Epub 2013 Jun 27.
There is no universally accepted definition of what an incidental finding is [Wolf et al., 2008] and broadly speaking this could include variants of known and unknown clinical significance, variants linked to highly penetrant, serious, life-threatening conditions, non-paternity or ancestry data. For the purposes of our study, we have adopted a pragmatic distinction between ‘pertinent’ and ‘incidental’ findings as set out in this text. Whilst in the US definitions of incidental findings are becoming accepted in practice [Green et al., 2013] it is still not known how and whether these also apply elsewhere around the world.
目前对于偶然发现还没有一个被普遍接受的定义[Wolf 等人,2008],通常来说,偶然发现包括了已知和未知的具有临床意义的变异,与高度外显、严重、威胁生命的疾病相关的变异,非亲生关系或家族史数据。在我们的研究中,我们根据本文的阐述,对“相关”和“偶然”发现进行了实用的区分。虽然在美国,偶然发现的定义在实践中已被接受[Green 等人,2013],但我们仍不知道这些定义在世界各地是如何以及是否适用。