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

CA Cassa, B Schmidt, IS Kohane, KD Mandl - BMC medical genomics, 2008 - Springer
BMC medical genomics, 2008Springer
Abstract 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 …
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.
Springer
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