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...
| Main Authors: | , , , |
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| Other Authors: | |
| Format: | Article |
| Language: | en_US |
| Published: |
BioMed Central Ltd.
2009
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| Online Access: | http://hdl.handle.net/1721.1/49471 |
| _version_ | 1826213315420880896 |
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| author | Cassa, Christopher A. Schmidt, Brian Kohane, Isaac Mandl, Kenneth D. |
| author2 | Harvard University--MIT Division of Health Sciences and Technology |
| author_facet | Harvard University--MIT Division of Health Sciences and Technology Cassa, Christopher A. Schmidt, Brian Kohane, Isaac Mandl, Kenneth D. |
| author_sort | Cassa, Christopher A. |
| collection | MIT |
| description | 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. |
| first_indexed | 2024-09-23T15:47:06Z |
| format | Article |
| id | mit-1721.1/49471 |
| institution | Massachusetts Institute of Technology |
| language | en_US |
| last_indexed | 2024-09-23T15:47:06Z |
| publishDate | 2009 |
| publisher | BioMed Central Ltd. |
| record_format | dspace |
| spelling | mit-1721.1/494712022-10-02T04:03:34Z My sister's keeper?: genomic research and the identifiability of siblings Cassa, Christopher A. Schmidt, Brian Kohane, Isaac Mandl, Kenneth D. Harvard University--MIT Division of Health Sciences and Technology Massachusetts Institute of Technology. Computer Science and Artificial Intelligence Laboratory Massachusetts Institute of Technology. Department of Civil and Environmental Engineering Cassa, Christopher A. Cassa, Christopher A. Schmidt, Brian Kohane, Isaac Mandl, Kenneth D. 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. 2009-10-19T13:35:32Z 2009-10-19T13:35:32Z 2008-07 2007-11 Article http://purl.org/eprint/type/JournalArticle 1755-8794 http://hdl.handle.net/1721.1/49471 Cassa, Christopher, Brian Schmidt, Isaac Kohane, and Kenneth Mandl. 2008. My sister's keeper?: genomic research and the identifiability of siblings. BMC Medical Genomics 1, no. 1: 32. 18655711 en_US http://dx.doi.org/10.1186/1755-8794-1-32 BMC Medical Genomics Creative Commons Attribution http://creativecommons.org/licenses/by/2.0 application/pdf BioMed Central Ltd. Publisher |
| spellingShingle | Cassa, Christopher A. Schmidt, Brian Kohane, Isaac Mandl, Kenneth D. My sister's keeper?: genomic research and the identifiability of siblings |
| title | My sister's keeper?: genomic research and the identifiability of siblings |
| title_full | My sister's keeper?: genomic research and the identifiability of siblings |
| title_fullStr | My sister's keeper?: genomic research and the identifiability of siblings |
| title_full_unstemmed | My sister's keeper?: genomic research and the identifiability of siblings |
| title_short | My sister's keeper?: genomic research and the identifiability of siblings |
| title_sort | my sister s keeper genomic research and the identifiability of siblings |
| url | http://hdl.handle.net/1721.1/49471 |
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