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. 2018 Jan;6(1):35-43.
doi: 10.1002/mgg3.340. Epub 2017 Nov 2.

Consumer use and response to online third-party raw DNA interpretation services

Catharine Wang  1 , Tiernan J Cahill  2 , Andrew Parlato  2 , Blake Wertz  2 , Qiankun Zhong  2 , Tricia Norkunas Cunningham  1 , James J Cummings  2
Affiliations

Consumer use and response to online third-party raw DNA interpretation services

Catharine Wang et al. Mol Genet Genomic Med. 2018 Jan.

Abstract

Background: With the availability of raw DNA generated from direct-to-consumer (DTC) testing companies, there has been a proliferation of third-party online services that are available to interpret the raw data for both genealogy and/or health purposes. This study examines the current landscape and downstream clinical implications of consumer use of third-party services.

Methods: Study participants were recruited online from social media platforms. A total of 321 survey respondents reported using third-party services for raw DNA interpretation.

Results: Participants were highly motivated to explore raw DNA for ancestral information (67%), individual health implications (62%), or both (40%). Participants primarily used one of seven companies to interpret raw DNA; 73% used more than one. Company choice was driven by the type of results offered (51%), price (45%), and online reviews (31%). Approximately 30% of participants shared results with a medical provider and 21% shared with more than one. Outcomes of sharing ranged from disinterest/discounting of the information to diagnosis of genetic conditions. Participants were highly satisfied with their decision to analyze raw DNA (M = 4.54/5), yet challenges in understanding interpretation results were reported irrespective of satisfaction ratings.

Conclusion: Consumers face challenges in understanding the results and may seek out clinical assistance in interpreting their raw DNA results.

Keywords: direct-to-consumer; genetic testing; precision medicine; raw DNA; social media; third-party interpretation.

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Figures

Figure 1
Figure 1
Motives for raw DNA interpretation
Figure 2
Figure 2
Reasons for choosing third‐party service
See this image and copyright information in PMC

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