title: Content Analysis of Informed Consent for Whole Genome Sequencing Offered by Direct-to-Consumer Genetic Testing Companies.
abstract: Whole exome sequencing (WES) and whole genome sequencing (WGS) have become increasingly available in the research and clinical settings and are now also being offered by direct-to-consumer (DTC) genetic testing (GT) companies. This offer can be perceived as amplifying the already identified concerns regarding adequacy of informed consent (IC) for both WES/WGS and the DTC GT context. We performed a qualitative content analysis of Websites of four companies offering WES/WGS DTC regarding the following elements of IC: pre-test counseling, benefits and risks, and incidental findings (IFs). The analysis revealed concerns, including the potential lack of pre-test counseling in three of the companies studied, missing relevant information in the risks and benefits sections, and potentially misleading information for consumers. Regarding IFs, only one company, which provides opportunistic screening, provides basic information about their management. In conclusion, some of the information (and related practices) present on the companies' Web pages salient to the consent process are not adequate in reference to recommendations for IC for WGS or WES in the clinical context. Requisite resources should be allocated to ensure that commercial companies are offering high-throughput sequencing under responsible conditions, including an adequate consent process.
authors.affiliation: Erasmus Plus Doctoral Programme in Law, Science and Technology, CIRSFID, University of Bologna, Bologna, Italy.|Department of Law, University of Turin, Turin, Italy.|Centre for Ethics and Law in the Life Sciences, Leibniz University Hannover, Hannover, Germany.
authors.forename: Emilia
authors.initials: E
authors.lastname: Niemiec
authors.affiliation: Centre for Biomedical Ethics and Law, Department of Public Health and Primary Care KU Leuven, Leuven, Belgium.
authors.forename: Pascal
authors.initials: P
authors.lastname: Borry
authors.affiliation: Faculty of Medicine and Life Sciences, Hasselt University, Hasselt, Belgium.
authors.forename: Wim
authors.initials: W
authors.lastname: Pinxten
authors.affiliation: Centre for Research Ethics and Bioethics, Uppsala University, Uppsala, Sweden.
authors.forename: Heidi Carmen
authors.initials: HC
authors.lastname: Howard
mesh_terms: D000067108:Direct-To-Consumer Screening and Testing / Q000458:organization & administration; D015894:Genome, Human; D059014:High-Throughput Nucleotide Sequencing / Q000379:methods*; D006801:Humans; D033162:Incidental Findings; D007258:Informed Consent; D036301:Qualitative Research; D017422:Sequence Analysis, DNA / Q000379:methods*; D064878:Web Browser
keywords: consumer genomics; direct-to-consumer genetic testing; informed consent; whole exome sequencing; whole genome sequencing