My Sister's Keeper?: Genomic Research and the Identifiability of Siblings
| 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. |
| Full Text & Related Files: |
2503988.pdf (646.2Kb; PDF) 
|
| 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 |
| Downloads of this work: |
This item appears in the following Collection(s)
-
HMS Scholarly Articles [20454]
Contact administrator regarding this item (to report mistakes or request changes)
