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

• Main Authors: Cassa, Christopher A. (Contributor), Schmidt, Brian (Contributor), Kohane, Isaac (Contributor), Mandl, Kenneth D. (Contributor)
• Other Authors: Harvard University- (Contributor), Massachusetts Institute of Technology. Computer Science and Artificial Intelligence Laboratory (Contributor), Massachusetts Institute of Technology. Department of Civil and Environmental Engineering (Contributor)
• Format: Article
• Language: English
• Published: BioMed Central Ltd., 2009-10-19T13:35:32Z.
• Subjects: Article
• Online Access: Get fulltext

 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.