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. 2017;20(1):36-45.
doi: 10.1159/000455006. Epub 2017 Jan 10.

Direct-to-Consumer Genetic Testing: User Motivations, Decision Making, and Perceived Utility of Results

J Scott Roberts  1 , Michele C Gornick, Deanna Alexis Carere, Wendy R Uhlmann, Mack T Ruffin, Robert C Green
Affiliations

Direct-to-Consumer Genetic Testing: User Motivations, Decision Making, and Perceived Utility of Results

J Scott Roberts et al. Public Health Genomics. 2017.

Abstract

Background/aims: To describe the interests, decision making, and responses of consumers of direct-to-consumer personal genomic testing (DTC-PGT) services.

Methods: Prior to 2013 regulatory restrictions on DTC-PGT services, 1,648 consumers from 2 leading companies completed Web surveys before and after receiving test results.

Results: Prior to testing, DTC-PGT consumers were as interested in ancestry (74% very interested) and trait information (72%) as they were in disease risks (72%). Among disease risks, heart disease (68% very interested), breast cancer (67%), and Alzheimer disease (66%) were of greatest interest prior to testing. Interest in disease risks was associated with female gender and poorer self-reported health (p < 0.01). Many consumers (38%) did not consider the possibility of unwanted information before purchasing services; this group was more likely to be older, male, and less educated (p < 0.05). After receiving results, 59% of respondents said test information would influence management of their health; 2% reported regret about seeking testing and 1% reported harm from results.

Conclusion: DTC-PGT has attracted controversy because of the health-related information it provides, but nonmedical information is of equal or greater interest to consumers. Although many consumers did not fully consider potential risks prior to testing, DTC-PGT was generally perceived as useful in informing future health decisions.

Keywords: Direct-to-consumer genomic testing; Genetic testing; Health policy; Personal genomics; Test utility.

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Conflict of interest statement

Disclosure Statement

Dr. Green is compensated for speaking or advisory services from AIA, Helix, Illumina, Invitae, and Prudential. The other authors have no conflicts of interest to disclose.

References

    1. Caulfield T, McGuire AL: Direct-to-consumer genetic testing: perceptions, problems, and policy responses. Annu Rev Med 2012; 63: 23–33. - PubMed
    1. Vayena E: Direct-to-consumer genomics on the scales of autonomy. J Med Ethics 2015; 41: 310–314. - PMC - PubMed
    1. Spencer DH, Lockwood C, Topol E, et al. : Direct-to-consumer genetic testing: reliable or risky? Clin Chem 2011; 57: 1641–1644. - PubMed
    1. Hudson K, Javitt G, Burke W, Byers P; American Society of Human Genetics Social Issues C: ASHG Statement* on direct-to-consumer genetic testing in the United States. Obstet Gynecol 2007; 110: 1392–1395. - PubMed
    1. American College of Medical Genetics and Genomics: Direct-to-consumer genetic testing: a revised position statement of the American College of Medical Genetics and Genomics. Genet Med 2016; 18: 207–208. - PubMed

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