Direct-to-consumer genomic testing: systematic review of the literature on user perspectives

Goldsmith, Lesley; Jackson, Leigh; O’Connor, Anita; Skirton, Heather

doi:10.1038/ejhg.2012.18

Cited by 90 publications

(91 citation statements)

References 31 publications

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“…The key reasons for potentially undergoing DTC genomic testing in this study population was the opportunity for research participation as well as receiving information about health and personal traits. These findings are similar to other studies [9], although it is of particular interest that in our sample research participation was highly ranked. The research participation motive was mostly chosen by science/engineering and medical students.…”

Section: Discussionsupporting

confidence: 92%

“…In the case of good news, other issues surfaced, such as those about the nature of the tests and their low clinical utility. Other studies, however, that have examined experiences of actual test-takers show that users are unlikely to act on the results they receive through DTC testing, even if at the time of testing they intended to act [9,21]. It is unclear why DTC genomics results do not seem to have either a positive (or negative) effect on actions about health [31].…”

Section: Discussionmentioning

confidence: 99%

“…A number of studies have sought to better understand actual and prospective DTC genomics users [9,10]. While some patterns eventually begin to emerge, i.e.…”

Section: Introductionmentioning

confidence: 99%

See 2 more Smart Citations

Playing a Part in Research? University Students' Attitudes to Direct-To-Consumer Genomics

Vayena

Ineichen

Stoupka³

et al. 2014

Public Health Genomics

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Aims: This study examined the attitudes of 1,146 Swiss University students to direct-to-consumer (DTC) genomic testing and to genomic research participation. Methods: Data were collected through a self-completion online questionnaire by students from 2 higher education institutions in Zurich, Switzerland. The survey aimed to capture motivation for undergoing or refraining from genomic testing, reactions to mock genetic risk results, and views about contributing data to scientific research. Descriptive and inferential statistics were used for the analysis. Results: A total of 1.5% of the students had undergone testing. Most respondents were studying natural sciences and were interested in undergoing DTC genomic testing. The main motive was to contribute their data to scientific research, followed closely by their interest to find out disease risks and personal traits. Overall, 41% of the respondents were not interested in DTC tests. The primary reasons were concerns about receiving potentially worrying results. There was a significant correlation between studying natural sciences, as opposed to the humanities, and interest in undergoing testing. Male respondents were more interested in testing compared to females. There was a strong interest in genetic research participation and notably limited privacy concerns. Conclusion: Although 59% of the respondents were interested in DTC genomic testing, they were not likely to be affected by them or act upon them. This raises questions about concerns relating to potential risks of DTC genomics users and users' understanding of genetic information including their awareness of privacy risks. Furthermore, the strong interest in genetic research participation signals an underexplored personal utility of genomic testing which needs to be both better understood and better harnessed.

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Section: Discussionsupporting

confidence: 92%

Section: Discussionmentioning

confidence: 99%

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Playing a Part in Research? University Students' Attitudes to Direct-To-Consumer Genomics

Vayena

Ineichen

Stoupka³

et al. 2014

Public Health Genomics

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“…Ignorance about the fact that DNA is beneficial to the generation of PN might have lowered the perception of personalisation benefit. In addition to perceiving DNA as not beneficial to PN, and consistent with studies into consumer attitudes [41,42,43], disclosing DNA to a PN service was identified as a factor that increases privacy risk. Participants, for example, mentioned that DNA should not fall into the wrong hands, either when disclosing it to the PN service or when it is already made available to the PN service for the purpose of PN advice generation (stages 1 and 2 of the PN information exchange process).…”

Section: Discussionmentioning

confidence: 52%

Understanding Consumer Evaluations of Personalised Nutrition Services in Terms of the Privacy Calculus: A Qualitative Study

Berezowska¹,

Fischer²,

Ronteltap³

et al. 2014

Public Health Genomics

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Background: Personalised nutrition (PN) may provide major health benefits to consumers. A potential barrier to the uptake of PN is consumers' reluctance to disclose sensitive information upon which PN is based. This study adopts the privacy calculus to explore how PN service attributes contribute to consumers' privacy risk and personalisation benefit perceptions. Methods: Sixteen focus groups (n = 124) were held in 8 EU countries and discussed 9 PN services that differed in terms of personal information, communication channel, service provider, advice justification, scope, frequency, and customer lock-in. Transcripts were content analysed. Results: The personal information that underpinned PN contributed to both privacy risk perception and personalisation benefit perception. Disclosing information face-to-face mitigated the perception of privacy risk and amplified the perception of personalisation benefit. PN provided by a qualified expert and justified by scientific evidence increased participants' value perception. Enhancing convenience, offering regular face-to face support, and employing customer lock-in strategies were perceived as beneficial. Conclusion: This study suggests that to encourage consumer adoption, PN has to account for face-to-face communication, expert advice providers, support, a lifestyle-change focus, and customised offers. The results provide an initial insight into service attributes that influence consumer adoption of PN.

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“…The attack process is similar to existent direct-to-consumer health-related genetic profiling [13], which informs about an individual's probabilities of contracting a disease or any other gene-related information. These tests do not provide diagnosis, but in the wrong hands, they still may cause harm to a victim's reputation or otherwise disadvantage her.…”

Section: Attackmentioning

confidence: 99%

A High-Throughput Method to Detect Privacy-Sensitive Human Genomic Data

Cogo

Bessani

Couto

et al. 2015

Proceedings of the 14th ACM Workshop on Privacy in the Electronic Society

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Finding the balance between privacy protection and data sharing is one of the main challenges in managing human genomic data nowadays. Novel privacy-enhancing technologies are required to address the known disclosure threats to personal sensitive genomic data without precluding data sharing. In this paper, we propose a method that systematically detects privacy-sensitive DNA segments coming directly from an input stream, using as reference a knowledge database of known privacy-sensitive nucleic and amino acid sequences. We show that adding our detection method to standard security techniques provides a robust, efficient privacy-preserving solution that neutralizes threats related to recently published attacks on genome privacy based on short tandem repeats, disease-related genes, and genomic variations. Current global knowledge on human genomes demonstrates the feasibility of our approach to obtain a comprehensive database immediately, which can also evolve automatically to address future attacks as new privacy-sensitive sequences are identified. Additionally, we validate that the detection method can be fitted inline with the NGS-Next Generation Sequencing-production cycle by using Bloom filters and scaling out to faster sequencing machines.

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Direct-to-consumer genomic testing: systematic review of the literature on user perspectives

Cited by 90 publications

References 31 publications

Playing a Part in Research? University Students' Attitudes to Direct-To-Consumer Genomics

Playing a Part in Research? University Students' Attitudes to Direct-To-Consumer Genomics

Understanding Consumer Evaluations of Personalised Nutrition Services in Terms of the Privacy Calculus: A Qualitative Study

A High-Throughput Method to Detect Privacy-Sensitive Human Genomic Data

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