My sister's keeper?: genomic research and the identifiability of siblings

被引:18
作者
Cassa, Christopher A. [1 ,2 ]
Schmidt, Brian [2 ]
Kohane, Isaac S. [1 ,3 ]
Mandl, Kenneth D. [1 ,3 ]
机构
[1] Harvard Mit Div Hlth Sci & Technol, Childrens Hosp Informat Program, Boston, MA USA
[2] MIT, CSAIL, Clin Decis Making Grp, Cambridge, MA 02139 USA
[3] Harvard Univ, Sch Med, Boston, MA USA
基金
美国国家卫生研究院;
关键词
D O I
10.1186/1755-8794-1-32
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
Background: Genomic sequencing of SNPs is increasingly prevalent, though the amount of familial information these data contain has not been quantified. Methods: We provide a framework for measuring the risk to siblings of a patient's SNP genotype disclosure, and demonstrate that sibling SNP genotypes can be inferred with substantial accuracy. Results: Extending this inference technique, we determine that a very low number of matches at commonly varying SNPs is sufficient to confirm sib-ship, demonstrating that published sequence data can reliably be used to derive sibling identities. Using HapMap trio data, at SNPs where one child is homozygotic major, with a minor allele frequency <= 0.20, (N = 452684, 65.1%) we achieve 91.9% inference accuracy for sibling genotypes. Conclusion: These findings demonstrate that substantial discrimination and privacy risks arise from use of inferred familial genomic data.
引用
收藏
页数:11
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