Ethical issues in consumer genome sequencing: Use of consumers' samples and data

Show simple item record

dc.identifier.uri Niemiec, Emilia Howard, Heidi Carmen 2016-10-31T10:06:41Z 2016-10-31T10:06:41Z 2016
dc.identifier.citation Niemiec, Emilia; Howard, Heidi Carmen: Ethical issues in consumer genome sequencing: Use of consumers' samples and data. In: Applied and Translational Genomics 8 (2016), S. 23-30. DOI:
dc.description.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. eng
dc.description.sponsorship Swedish Foundation for Humanities and Social Sciences/M13-0260:1
dc.description.sponsorship Biobanking and Molecular Resource Infrastructure of Sweden (
dc.description.sponsorship BMRI-ERIC
dc.description.sponsorship CHIP ME COST Action IS130
dc.language.iso eng
dc.publisher Amsterdam : Elsevier
dc.relation.ispartofseries Applied and Translational Genomics 8 (2016)
dc.rights CC BY-NC-ND 4.0
dc.subject Consent eng
dc.subject Consumer genomics eng
dc.subject Direct-to-consumer genetic testing eng
dc.subject Human genome research eng
dc.subject Whole-exome sequencing eng
dc.subject Whole-genome sequencing eng
dc.subject access to information eng
dc.subject Article eng
dc.subject consumer health information eng
dc.subject data processing eng
dc.subject gene sequence eng
dc.subject genetic database eng
dc.subject health care policy eng
dc.subject human eng
dc.subject information dissemination eng
dc.subject information processing eng
dc.subject informed consent eng
dc.subject medical research eng
dc.subject practice guideline eng
dc.subject priority journal eng
dc.subject sequence analysis eng
dc.subject web browser eng
dc.subject whole exome sequencing eng
dc.subject whole genome sequencing eng
dc.subject.ddc 570 | Biowissenschaften, Biologie ger
dc.title Ethical issues in consumer genome sequencing: Use of consumers' samples and data
dc.type article
dc.type Text
dc.relation.issn 2212-0661
dc.bibliographicCitation.volume 8
dc.bibliographicCitation.firstPage 23
dc.bibliographicCitation.lastPage 30
dc.description.version publishedVersion
tib.accessRights frei zug�nglich

Files in this item

This item appears in the following Collection(s):

Show simple item record


Search the repository


My Account

Usage Statistics