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Ethical issues in consumer genome sequencing: Use of consumers' samples and data
Univ Bologna, Joint Int PhD Program Law Sci & Technol, Via Galliera 3, I-40121 Bologna, Italy.;Univ Turin, Dept Law, Lungo Dora Siena 100 A, I-10153 Turin, Italy.;Leibniz Univ Hannover, Ctr Eth & Law Life Sci, Klagesmarkt 14-17, D-30159 Hannover, Germany..
Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Public Health and Caring Sciences, Centre for Research Ethics and Bioethics.
2016 (English)In: APPLIED AND TRANSLATIONAL GENOMICS, ISSN 2212-0661, Vol. 8, 23-30 p.Article in journal (Refereed) PublishedText
Abstract [en]

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 transparency 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 datawith 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 handling of consumers' samples and data, including having an explicit and clear consent process for research activities.

Place, publisher, year, edition, pages
2016. Vol. 8, 23-30 p.
Keyword [en]
Whole-genome sequencing, Whole-exome sequencing, Direct-to-consumer genetic testing, Consumer genomics, Human genome research, Consent
National Category
Medical and Health Sciences
URN: urn:nbn:se:uu:diva-294326DOI: 10.1016/j.atg.2016.01.005ISI: 000372979700005PubMedID: 27047756OAI: diva2:929401
Available from: 2016-05-18 Created: 2016-05-18 Last updated: 2016-05-18Bibliographically approved

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Howard, Heidi Carmen
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