Genome privacy: challenges, technical approaches to mitigate risk, and ethical considerations in the United States.
Accessing and integrating human genomic data with phenotypes are important for biomedical research. Making genomic data accessible for research purposes, however, must be handled carefully to avoid leakage of sensitive individual information to unauthorized parties and improper use of data. In this article, we focus on data sharing within the scope of data accessibility for research. Current common practices to gain biomedical data access are strictly rule based, without a clear and quantitative measurement of the risk of privacy breaches. In addition, several types of studies require privacy-preserving linkage of genotype and phenotype information across different locations (e.g., genotypes stored in a sequencing facility and phenotypes stored in an electronic health record) to accelerate discoveries. The computer science community has developed a spectrum of techniques for data privacy and confidentiality protection, many of which have yet to be tested on real-world problems. In this article, we discuss clinical, technical, and ethical aspects of genome data privacy and confidentiality in the United States, as well as potential solutions for privacy-preserving genotype-phenotype linkage in biomedical research.
Department of Biomedical Informatics, University of California San Diego, La Jolla, California.
Shuang
S
Wang
Department of Biomedical Informatics, University of California San Diego, La Jolla, California.
Xiaoqian
X
Jiang
Department of Biomedical Informatics, University of California San Diego, La Jolla, California.
Siddharth
S
Singh
Department of Biomedical Informatics, University of California San Diego, La Jolla, California.
Rebecca
R
Marmor
Department of Biomedical Informatics, University of California San Diego, La Jolla, California.
Luca
L
Bonomi
School of Law, University of San Diego, San Diego, California.
Dov
D
Fox
Department of Biomedical Informatics, University of California San Diego, La Jolla, California.
Michelle
M
Dow
Department of Biomedical Informatics, University of California San Diego, La Jolla, California.
Lucila
L
Ohno-Machado
D019295:Computational Biology / Q000941:ethics / Q000592:standards / Q000639:trends; D016494:Computer Security; D057225:Data Mining / Q000941:ethics / Q000592:standards / Q000639:trends; D030661:Genetic Privacy / Q000941:ethics / Q000331:legislation & jurisprudence / Q000592:standards / Q000639:trends; D023281:Genomics / Q000941:ethics / Q000379:methods* / Q000592:standards / Q000639:trends; D006801:Humans; D007258:Informed Consent / Q000331:legislation & jurisprudence / Q000592:standards; D008498:Medical Record Linkage / Q000592:standards; D012308:Risk Management; D014481:United States
ethics; genome privacy and confidentiality; privacy law; record linkage
J Am Med Inform Assoc. 2016 May;23(3):570-9
26554428
Med Law Rev. 2013 Winter;21(1):71-91
23325780
BMC Med Genomics. 2011 Jan 26;4:13
21269473
Am J Hypertens. 2009 May;22(5):545-51
19247266
BMC Med Inform Decis Mak. 2009 Jan 16;9:3
19149883
J Clin Epidemiol. 2011 May;64(5):565-72
20952162
BMC Med Inform Decis Mak. 2015;15 Suppl 5:S4
26733307
BMC Med Inform Decis Mak. 2015;15 Suppl 5:S5
26733391
Cancer Epidemiol Biomarkers Prev. 2008 Jun;17(6):1440-51
18559560
Proc Natl Acad Sci U S A. 2015 Jul 14;112(28):8515-6
26174872
Acad Emerg Med. 2007 Jul;14(7):646-52
17554009
Ann Epidemiol. 2010 Oct;20(10):734-42
20620077
AMIA Annu Symp Proc. 2008 Nov 06;:440-4
18998844
Am J Manag Care. 2010 Feb 01;16(2):e51-6
20148610
BMC Med Inform Decis Mak. 2014;14 Suppl 1:S2
25521306
J Am Med Inform Assoc. 2012 Jun;19(e1):e157-61
22298567
Bioinformatics. 2016 Jan 15;32(2):211-8
26446135
Nat Genet. 2007 Oct;39(10):1181-6
17898773
J Priv Confid. 2013;5(1):137-166
26525346
Nat Rev Genet. 2008 May;9(5):406-11
18379574
J Biomed Inform. 2014 Aug;50:133-41
24509073
Genes (Basel). 2014 Aug 29;5(3):739-47
25178093
Eur J Hum Genet. 2005 Sep;13(9):1071-6
15986039
IEEE Trans Knowl Data Eng. 2014 Dec;26(12):2956-2968
25530689
Science. 2008 Oct 3;322(5898):44
18772394
Am Heart J. 2010 Dec;160(6):1099-104
21146664
Surg Clin North Am. 2008 Aug;88(4):723-38, vi
18672138
Eur J Hum Genet. 2016 Jul;24(7):956-60
26554881
BMC Med Inform Decis Mak. 2014;14 Suppl 1:S3
25521367
Am J Epidemiol. 2008 Dec 1;168(11):1326-32
18849301
J Biomed Inform. 2013 Jun;46(3):480-96
23562651
Science. 2008 Nov 14;322(5904):1054-5
19008431
J Am Med Inform Assoc. 2015 Nov;22(6):1220-30
26342218
Am J Bioeth. 2015;15(9):34-42
26305750
Nat Genet. 2009 Sep;41(9):965-7
19701190
PLoS One. 2013 Aug 16;8(8):e69932
23976944
AMIA Annu Symp Proc. 2007 Oct 11;:1-5
18693786
BMC Med Inform Decis Mak. 2016 Jul 25;16 Suppl 3:89
27454168
Bioethics. 2005 Apr;19(2):112-30
15943021
BMC Med Inform Decis Mak. 2014;14 Suppl 1:S1
25521230
AMIA Annu Symp Proc. 2017 Feb 10;2016:1747-1755
28269933
J Am Med Inform Assoc. 2015 Sep;22(5):1072-80
26104741
Methods Mol Biol. 2011;675:127-64
20949386
PLoS Genet. 2008 Aug 29;4(8):e1000167
18769715
Mol Syst Biol. 2005;1:2005.0030
16729065
Nat Rev Genet. 2014 Jun;15(6):409-21
24805122
BMC Med Inform Decis Mak. 2015;15 Suppl 5:S2
26733045
J Am Med Inform Assoc. 2015 Nov;22(6):1212-9
26159465
Science. 2013 Jan 18;339(6117):321-4
23329047
BMC Med Inform Decis Mak. 2015;15 Suppl 5:S3
26733152
Science. 2013 Jan 18;339(6117):275-6
23329035
Science. 2008 Sep 5;321(5894):1278
18772401
Nature. 2015 Mar 26;519(7544):400-1
25810184
Med Health Care Philos. 2005;8(3):315-21
16283494
IEEE Int Conf Systems Biol. 2014 Oct;2014:176-183
26146645
Bioinformatics. 2013 Dec 15;29(24):3238-40
24072732
J Am Med Inform Assoc. 2013 May 1;20(3):462-9
23242630
Genet Test Mol Biomarkers. 2013 Dec;17(12):855-6
24283583
Inflamm Bowel Dis. 2013 Jun;19(7):1411-20
23567779
J Am Med Inform Assoc. 2012 Sep-Oct;19(5):758-64
22511014