TY - JOUR

T1 - Ethical issues in consumer genome sequencing

T2 - Use of consumers' samples and data

AU - Niemiec, Emilia

AU - Howard, Heidi Carmen

N1 - Funding Information: The authors thank Dr. Misha Angrist for his insightful comments on the manuscript. Emilia Niemiec is supported by an Erasmus Mundus Joint International Doctoral Program in Law, Science and Technology Fellowship. Part of this work has been supported by the Swedish Foundation for Humanities and Social Sciences ( Riksbankens Jubileumsfond under grant M13-0260:1 ), the Biobanking and Molecular Resource Infrastructure of Sweden (BBMRI.se), the BBMRI-ERIC , and the CHIP ME COST Action IS1303 . None of these funding sources have had any involvement in the preparation of this article. Publisher Copyright: © 2016.

PY - 2016/3/1

Y1 - 2016/3/1

N2 - 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.

AB - 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.

KW - Consent

KW - Consumer genomics

KW - Direct-to-consumer genetic testing

KW - Human genome research

KW - Whole-exome sequencing

KW - Whole-genome sequencing

UR - http://www.scopus.com/inward/record.url?scp=84960812843&partnerID=8YFLogxK

U2 - 10.1016/j.atg.2016.01.005

DO - 10.1016/j.atg.2016.01.005

M3 - Journal article

AN - SCOPUS:84960812843

VL - 8

SP - 23

EP - 30

JO - Applied and Translational Genomics

JF - Applied and Translational Genomics

SN - 2212-0661

ER -