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


CONCLUSIONS
These findings demonstrate that substantial discrimination and privacy risks arise from use of inferred familial genomic data.
Cassa
Christopher A
CA
Children's Hospital Informatics Program at the Harvard-MIT Division of Health Sciences and Technology, Boston, MA, USA. cassa@mit.edu
Schmidt
Brian
B
Kohane
Isaac S
IS
Mandl
Kenneth D
KD