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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...

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Detalles Bibliográficos
Autores principales: Cassa, Christopher A, Schmidt, Brian, Kohane, Isaac S, Mandl, Kenneth D
Formato: Texto
Lenguaje:English
Publicado: BioMed Central 2008
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.
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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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