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

• Main Authors: Kohane Isaac S (Author), Schmidt Brian (Author), Cassa Christopher A (Author), Mandl Kenneth D (Author)
• Format: Book
• Published: BMC, 2008-07-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.
• Notes: 10.1186/1755-8794-1-32; 1755-8794
• Keywords: Internal medicine; RC31-1245; Genetics; QH426-470
• Source: BMC Medical Genomics, Vol 1, Iss 1, p 32 (2008)

<p>Abstract</p> <p>Background</p> <p>Genomic sequencing of SNPs is increasingly prevalent, though the amount of familial information these data contain has not been quantified.</p> <p>Methods</p> <p>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.</p> <p>Results</p> <p>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.</p> <p>Conclusion</p> <p>These findings demonstrate that substantial discrimination and privacy risks arise from use of inferred familial genomic data.</p>