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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 gen...
Autores principales: | , , , |
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Formato: | Texto |
Lenguaje: | English |
Publicado: |
BioMed Central
2008
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2503988/ https://www.ncbi.nlm.nih.gov/pubmed/18655711 http://dx.doi.org/10.1186/1755-8794-1-32 |
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author | Cassa, Christopher A Schmidt, Brian Kohane, Isaac S Mandl, Kenneth D |
author_facet | Cassa, Christopher A Schmidt, Brian Kohane, Isaac S Mandl, Kenneth D |
author_sort | Cassa, Christopher A |
collection | PubMed |
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. |
format | Text |
id | pubmed-2503988 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2008 |
publisher | BioMed Central |
record_format | MEDLINE/PubMed |
spelling | pubmed-25039882008-08-08 My sister's keeper?: genomic research and the identifiability of siblings Cassa, Christopher A Schmidt, Brian Kohane, Isaac S Mandl, Kenneth D BMC Med Genomics Research Article 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. BioMed Central 2008-07-25 /pmc/articles/PMC2503988/ /pubmed/18655711 http://dx.doi.org/10.1186/1755-8794-1-32 Text en Copyright © 2008 Cassa et al; licensee BioMed Central Ltd. http://creativecommons.org/licenses/by/2.0 This is an Open Access article distributed under the terms of the Creative Commons Attribution License ( (http://creativecommons.org/licenses/by/2.0) ), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. |
spellingShingle | Research Article Cassa, Christopher A Schmidt, Brian Kohane, Isaac S 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 |
topic | Research Article |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2503988/ https://www.ncbi.nlm.nih.gov/pubmed/18655711 http://dx.doi.org/10.1186/1755-8794-1-32 |
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