PT  - JOURNAL ARTICLE
AU  - Peter Ney
AU  - Arkaprabha Bhattacharya
AU  - David Ward
AU  - Luis Ceze
AU  - Tadayoshi Kohno
AU  - Jeff Nivala
TI  - Doctoring Direct-to-Consumer Genetic Tests with DNA Spike-Ins
AID  - 10.1101/2022.04.01.486752
DP  - 2022 Jan 01
TA  - bioRxiv
PG  - 2022.04.01.486752
4099  - http://biorxiv.org/content/early/2022/04/07/2022.04.01.486752.short
4100  - http://biorxiv.org/content/early/2022/04/07/2022.04.01.486752.full
AB  - 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 StatementThe authors have declared no competing interest.