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My sister's keeper?: genomic research and the identifiability of siblings.
BMC Med Genomics 2008; 1:32BM

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 </= 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.

Authors+Show Affiliations

Children's Hospital Informatics Program at the Harvard-MIT Division of Health Sciences and Technology, Boston, MA, USA. cassa@mit.eduNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Journal Article

Language

eng

PubMed ID

18655711

Citation

Cassa, Christopher A., et al. "My Sister's Keeper?: Genomic Research and the Identifiability of Siblings." BMC Medical Genomics, vol. 1, 2008, p. 32.
Cassa CA, Schmidt B, Kohane IS, et al. My sister's keeper?: genomic research and the identifiability of siblings. BMC Med Genomics. 2008;1:32.
Cassa, C. A., Schmidt, B., Kohane, I. S., & Mandl, K. D. (2008). My sister's keeper?: genomic research and the identifiability of siblings. BMC Medical Genomics, 1, p. 32. doi:10.1186/1755-8794-1-32.
Cassa CA, et al. My Sister's Keeper?: Genomic Research and the Identifiability of Siblings. BMC Med Genomics. 2008 Jul 25;1:32. PubMed PMID: 18655711.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - My sister's keeper?: genomic research and the identifiability of siblings. AU - Cassa,Christopher A, AU - Schmidt,Brian, AU - Kohane,Isaac S, AU - Mandl,Kenneth D, Y1 - 2008/07/25/ PY - 2007/11/26/received PY - 2008/07/25/accepted PY - 2008/7/29/pubmed PY - 2008/7/29/medline PY - 2008/7/29/entrez SP - 32 EP - 32 JF - BMC medical genomics JO - BMC Med Genomics VL - 1 N2 - 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. SN - 1755-8794 UR - https://www.unboundmedicine.com/medline/citation/18655711/My_sister's_keeper:_genomic_research_and_the_identifiability_of_siblings_ L2 - https://bmcmedgenomics.biomedcentral.com/articles/10.1186/1755-8794-1-32 DB - PRIME DP - Unbound Medicine ER -