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Doctoring Direct-to-Consumer Genetic Tests with DNA Spike-Ins

Peter Ney, Arkaprabha Bhattacharya, David Ward, Luis Ceze, Tadayoshi Kohno, Jeff Nivala
doi: https://doi.org/10.1101/2022.04.01.486752
Peter Ney
1Paul G. Allen School of Computer Science & Engineering. University of Washington; Seattle, Washington, USA
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  • For correspondence: jmdn@cs.washington.edu neyp@cs.washington.edu
Arkaprabha Bhattacharya
1Paul G. Allen School of Computer Science & Engineering. University of Washington; Seattle, Washington, USA
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David Ward
1Paul G. Allen School of Computer Science & Engineering. University of Washington; Seattle, Washington, USA
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Luis Ceze
1Paul G. Allen School of Computer Science & Engineering. University of Washington; Seattle, Washington, USA
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Tadayoshi Kohno
1Paul G. Allen School of Computer Science & Engineering. University of Washington; Seattle, Washington, USA
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Jeff Nivala
1Paul G. Allen School of Computer Science & Engineering. University of Washington; Seattle, Washington, USA
2Molecular Engineering and Sciences Institute. University of Washington; Seattle, Washington, USA
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  • For correspondence: jmdn@cs.washington.edu neyp@cs.washington.edu
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Abstract

Direct-to-consumer (DTC) genetic testing companies have provided personal genotyping services to millions of customers. Customers mail saliva samples to DTC service providers to have their genotypes analyzed and receive back their raw genetic data. Both consumers and the DTC companies use the results to perform ancestry analyses, relative matching, trait prediction, and estimate predisposition to disease, often relying on genetic databases composed of the data from millions of other DTC-genotyped individuals. While the digital integrity risks to this type of data have been explored, we considered whether data integrity issues could manifest upstream of data generation through physical manipulation of DNA samples themselves, for example by adding synthetic DNA to a saliva sample (“spiked samples”) prior to sample processing by a DTC company. Here, we investigated the feasibility of this scenario within the standard DTC genetic testing pipeline. Starting with the purchase of off-the-shelf DTC genetic testing kits, we found that synthetic DNA can be used to precisely manipulate the results of saliva samples genotyped by a popular DTC genetic testing service and that this method can be used to modify arbitrary single nucleotide polymorphisms (SNPs) in multiplex to create customized doctored genetic profiles. This capability has implications for the use of DTC-generated results and the outcomes of their downstream analyses.

Competing Interest Statement

The authors have declared no competing interest.

Copyright 
The copyright holder for this preprint is the author/funder, who has granted bioRxiv a license to display the preprint in perpetuity. It is made available under a CC-BY-NC-ND 4.0 International license.
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Posted April 07, 2022.
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Doctoring Direct-to-Consumer Genetic Tests with DNA Spike-Ins
Peter Ney, Arkaprabha Bhattacharya, David Ward, Luis Ceze, Tadayoshi Kohno, Jeff Nivala
bioRxiv 2022.04.01.486752; doi: https://doi.org/10.1101/2022.04.01.486752
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Doctoring Direct-to-Consumer Genetic Tests with DNA Spike-Ins
Peter Ney, Arkaprabha Bhattacharya, David Ward, Luis Ceze, Tadayoshi Kohno, Jeff Nivala
bioRxiv 2022.04.01.486752; doi: https://doi.org/10.1101/2022.04.01.486752

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