My Sister's Keeper?: Genomic Research and the Identifiability of Siblings

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My Sister's Keeper?: Genomic Research and the Identifiability of Siblings

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Title: My Sister's Keeper?: Genomic Research and the Identifiability of Siblings
Author: Schmidt, Brian; Cassa, Christopher Anthony; Kohane, Isaac Samuel; Mandl, Kenneth David

Note: Order does not necessarily reflect citation order of authors.

Citation: Cassa, Christopher A, Brian Schmidt, Isaac S Kohane, and Kenneth D Mandl. 2008. My sister's keeper?: genomic research and the identifiability of siblings. BMC Medical Genomics 1:32.
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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 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 \(\geq 0.20\), \((N = 452684, 65.1\%)\) 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.
Published Version: doi:10.1186/1755-8794-1-32
Other Sources: http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2503988/pdf/
Terms of Use: This article is made available under the terms and conditions applicable to Other Posted Material, as set forth at http://nrs.harvard.edu/urn-3:HUL.InstRepos:dash.current.terms-of-use#LAA
Citable link to this page: http://nrs.harvard.edu/urn-3:HUL.InstRepos:5358885

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