title: Ethical issues in consumer genome sequencing: Use of consumers' samples and data.
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 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 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 handling of consumers' samples and data, including having an explicit and clear consent process for research activities.
authors.affiliation: Joint International PhD Program in Law, Science and Technology, University of Bologna, Via Galliera 3, 40121 Bologna, Italy; Department of Law, University of Turin, Lungo Dora Siena 100 A, 10153 Turin, Italy; Centre for Ethics and Law in the Life Sciences, Leibniz University Hannover, Am Klagesmarkt 14-17, 30159 Hannover, Germany.
authors.forename: Emilia
authors.initials: E
authors.lastname: Niemiec
authors.affiliation: Centre for Research Ethics and Bioethics, Uppsala University, PO Box 564, SE-751 22 Uppsala, Sweden.
authors.forename: Heidi Carmen
authors.initials: HC
authors.lastname: Howard
keywords: Consent; Consumer genomics; Direct-to-consumer genetic testing; Human genome research; Whole-exome sequencing; Whole-genome sequencing