In a debate paper published by BMC Medical Ethics, Stoeklé et al. (2016) explore ethical issues in biobanking that relate to operating a direct-to-consumer (DTC) commercial genetic testing company that also collaborates with third-party researchers.1 Noting that this form of operation brings great potential for expanding resources for personalized medicine research, the authors consider areas that may cause concern regarding informed consent, privacy and data sharing.
Biotech company 23andMe has been in operation since 2006. It offers a DTC genetic testing service that provides ancestry information in addition to data on disease risk based on genomic analysis (suspended by the Food and Drug Administration in November 2013 due to concerns about predictive test validity; limited reinstatement in February 2015). For a fee, consumers can purchase personal genetic information on ancestry and also obtain a report on single-nucleotide polymorphisms that indicate susceptibility to disease. Consumers request a kit, which they then mail back to the company with a saliva sample in addition to self-reported personal information. Most consumers are healthy at the time of purchase, and many do this without medical supervision or prescription.
23andMe offers two services to the general public: DTC genetic testing for ancestry or disease prediction, and the opportunity to participate in 23andMe research. Participation in the latter is voluntary and optional but requires consent for the company to use samples and all data collected. Through digital permission, the company obtains consent to biobank saliva and DNA, and to store personal data, with permission to share these data with both the company and third-party collaborators. As discussed previously, most customers do not take these steps under medical supervision; furthermore, there is no direct contact with a clinical research counselor or equivalent, since all documentation is obtained digitally through a Web interface.
With the promotion of 23andMe research as an option to customers, Stoeklé et al. suggest that this novel commercial biobanking venture is a two-sided model acting as an intermediary between two markets: the general public and research bodies. There are therefore interests in both scientific and financial gain to consider in the company’s operation.
The researchers identify a number of concerns over ethical issues in the initial operation of 23andMe biobanking, and they raise them in this paper for discussion.
The paper’s authors raise the issue of lack of guidance over requesting genetic or ancestry testing. Customers opt for genetic indication of disease susceptibility without input from a clinician or genetics counselor. There is a little or no discussion of the goals for genetic testing. This may leave customers with little understanding of the impact that a genetic result can have, for themselves and family members.
Since the service also includes ancestry testing, paternity issues could arise. Although the company does state this potential in information to prospective customers, consent is only gathered from the fee-paying individual and not from relatives that might be affected by genetic testing.
There is also no explicit discussion of goals achievable from participating in additional research, although it is promoted as a full-service option. For this, customers consent to sharing biobanked samples and DNA, self-reported data, genetic information and statistics on their Web use behavior with 23andMe third-party collaborators.
23andMe returns genetic data directly to the consumer; there is no interpretation by or consultation with a trained medical professional, though customers can seek this option on their own. The level of genetics training among general practitioners is variable, and thus interpretation of results for follow-up might not be complete.
Privacy and safety issues
As mentioned, 23andMe offers two services to the public: genetic testing and an option to take part in further research. In the former, genetics results are relayed directly back to the individual and are thus covered in the United States by the Genetic Entitled Information Non-Discrimination Act , which prevents discrimination and privacy issues. However, by consenting to take part in research, the customer agrees to share data.
Operating for financial gain could limit accessibility by research institutions, thus promoting bias in studies arising from biobanked data; grant funding size and availability might limit access to data and resources.
Here, the authors note that Google was a major early investor in 23andMe during initial rounds of funding. 23andMe’s proximity to a global monopoly in Internet search technology stands out as an area of concern when considering its acquisition of user Web-browsing data.
Despite identifying concern for these ethical issues and raising them for debate, Stoeklé et al. point out that this biobanking model shows great potential as a resource for future research into personalized medicine. The value of DNA banking increases with the advent of new next-generation sequencing technologies such as the chip-based Illumina and Ion Torrent, and nanopore technology MinION instruments. In order to maximize this value, companies such as 23andMe should seek to improve transparency, building acceptance among consumers by detailing the benefits of biosample donation. In turn, the biobanking industry must develop better regulations to guide new business models and protect donors.
1. Stoeklé, H-C., et al. (2016) “23andMe: A new two-sided data-banking market model,” BioMed Central Medical Ethics,17(19). doi: 10.1186/s12910-016-0101-9.