Customers or research participants?: Guidance for research practices in commercialization of personal genomics

Center for Biomedical Ethics, School of Medicine, Stanford University, Stanford, California, USA.
Genetics in medicine: official journal of the American College of Medical Genetics (Impact Factor: 7.33). 06/2012; 14(10):833-835. DOI: 10.1038/gim.2012.64
Source: PubMed


Genet Med 2012:14(10):833-835.

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Available from: Nanibaa' A Garrison, Mar 11, 2014
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    • "Neither of the two companies that may conduct research and examined here offered a separate informed consent form for research. What is even more troubling, they also did not provide a possibility to opt-out of their potential research activities, which has been criticised as a practice undermining the autonomy of consumers (Tobin et al., 2012). In the remainder of this article we discuss some of the elements that have been highlighted in the above documents as being important to communicate to persons undergoing genetic or genomic testing. "
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    ABSTRACT: High throughput approaches such as whole genome sequencing (WGS) and whole exome sequencing (WES) create an unprecedented amount of data providing powerful resources for clinical care and research. Recently, WGS and WES services have been made available by commercial direct-to-consumer (DTC) companies. The DTC offer of genetic testing (GT) has already brought attention to potentially problematic issues such as the adequacy of consumers' informed consent and understanding of companies' research activities. In this study, we analysed the websites of four DTC GT companies offering WGS and/or WES with regard to their policies governing storage and future use of consumers' data and samples. The results are discussed in relation to recommendations and guiding principles such as the “Statement of the European Society of Human Genetics on DTC GT for health-related purposes” (2010) and the “Framework for responsible sharing of genomic and health-related data” (Global Alliance for Genomics and Health, 2014). The analysis reveals that some companies may store and use consumers' samples or sequencing data for unspecified research and share the data with third parties. Moreover, the companies do not provide sufficient or clear information to consumers about this, which can undermine the validity of the consent process. Furthermore, while all companies state that they provide privacy safeguards for data and mention the limitations of these, information about the possibility of re-identification is lacking. Finally, although the companies that may conduct research do include information regarding proprietary claims and commercialisation of the results, it is not clear whether consumers are aware of the consequences of these policies. These results indicate that DTC GT companies still need to improve the transparency regarding disposition of consumers' samples and data handling, including having an explicit and clear consent processes for research activities.
    Full-text · Article · Feb 2016 · Applied and Translational Genomics
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    • "Our study findings indicate an underutilization of genetic-counseling services. Although few studies have examined consumer decisions to seek genetic counseling, this result is consistent with a survey based study conducted by Kaufman et al., [22] in which a mere 1% of participants sought out genetic counseling when interpreting their results [23]. Our study result may be explained in part by the biased perception of the students undergoing personal genotyping that, unlike the general population, they possessed sufficient knowledge to interpret their results. "
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    ABSTRACT: Background Direct-to-consumer (DTC) personal genotyping services are beginning to be adopted by educational institutions as pedagogical tools for learning about human genetics. However, there is little known about student reactions to such testing. This study investigated student experiences and attitudes towards DTC personal genome testing. Methods Individual interviews were conducted with students who chose to undergo personal genotyping in the context of an elective genetics course. Ten medical and graduate students were interviewed before genotyping occurred, and at 2 weeks and 6 months after receiving their genotype results. Qualitative analysis of interview transcripts assessed the expectations and experiences of students who underwent personal genotyping, how they interpreted and applied their results; how the testing affected the quality of their learning during the course, and what were their perceived needs for support. Results Students stated that personal genotyping enhanced their engagement with the course content. Although students expressed skepticism over the clinical utility of some test results, they expressed significant enthusiasm immediately after receiving their personal genetic analysis, and were particularly interested in results such as drug response and carrier testing. However, few reported making behavioral changes or following up on specific results through a healthcare provider. Students did not report utilizing genetic counseling, despite feeling strongly that the 'general public' would need these services. In follow-up interviews, students exhibited poor recall on details of the consent and biobanking agreements, but expressed little regret over their decision to undergo genotyping. Students reported mining their raw genetic data, and conveyed a need for further consultation support in their exploration of genetic variants. Conclusions Personal genotyping may improve students' self-reported motivation and engagement with course material. However, consultative support that is different from traditional genetic counseling will be necessary to support students. Before incorporating personal genotyping into coursework, institutions should lead multi-disciplinary discussion to anticipate issues and incorporate teaching mechanisms that engage the ethical, legal, and social implications of personal genotyping, including addressing those found in this study, to go beyond what is offered by commercial providers.
    Full-text · Article · Mar 2013 · Genome Medicine

  • No preview · Article · Dec 2012 · Trends in Biotechnology
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