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Please use this identifier to cite or link to this item: http://hdl.handle.net/1942/23241

Title: Content Analysis of Informed Consent for Whole Genome Sequencing Offered by Direct-to-Consumer Genetic Testing Companies
Authors: Niemiec, Emilia
Borry, Pascal
Pinxten, Wim
Howard, Heidi Carmen
Issue Date: 2016
Citation: HUMAN MUTATION, 37(12), p. 1248-1256
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. (C) 2016 Wiley Periodicals, Inc.
Notes: [Niemiec, Emilia] Univ Bologna, CIRSFID, Erasmus Plus Doctoral Programme Law Sci & Technol, Via Galliera 3, I-40121 Bologna, Italy. [Niemiec, Emilia] Univ Turin, Dept Law, Turin, Italy. [Niemiec, Emilia] Leibniz Univ Hannover, Ctr Eth & Law Life Sci, Hannover, Germany. [Borry, Pascal] Katholieke Univ Leuven, Ctr Biomed Eth & Law, Dept Publ Hlth & Primary Care, Leuven, Belgium. [Pinxten, Wim] Hasselt Univ, Fac Med & Life Sci, Hasselt, Belgium. [Howard, Heidi Carmen] Uppsala Univ, Ctr Res Eth & Bioeth, Uppsala, Sweden.
URI: http://hdl.handle.net/1942/23241
DOI: 10.1002/humu.23122
ISI #: 000388701600002
ISSN: 1059-7794
Category: A1
Type: Journal Contribution
Appears in Collections: Research publications

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