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

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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:

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Sum total of downloads: 169

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.
License of this version: CC BY-NC-ND 4.0
Document Type: article
Publishing status: publishedVersion
Issue Date: 2016
Appears in Collections:Forschungszentren

distribution of downloads over the selected time period:

downloads by country:

pos. country downloads
total perc.
1 image of flag of Germany Germany 122 72.19%
2 image of flag of United States United States 21 12.43%
3 image of flag of Russian Federation Russian Federation 4 2.37%
4 image of flag of United Kingdom United Kingdom 3 1.78%
5 image of flag of China China 3 1.78%
6 image of flag of Uzbekistan Uzbekistan 2 1.18%
7 image of flag of Ukraine Ukraine 2 1.18%
8 image of flag of Indonesia Indonesia 2 1.18%
9 image of flag of Denmark Denmark 2 1.18%
10 image of flag of Croatia Croatia 1 0.59%
    other countries 7 4.14%

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