Editor’s note: This essay responds to an invitation (issued here and here) to submit commentaries on the ethical implications of partnerships between social media companies and biomedical researchers. The invitation is ongoing.
Last June, the direct-to-consumer genetic testing company 23andMe announced that it had reached the milestone of 1,000,000 genotyped costumers. While the company celebrated this milestone as a “turning point” in genetic testing, we believe it is in fact cause for concern. Our concern is that the growing importance of 23andMe’s database as a resource for research – and recently also a recipient of public funding – will aggravate existing biases in disease research, leading to impoverished knowledge and exacerbated inequalities.
For over a decade, studies have drawn attention to the stark underrepresentation of people of non-European descent in genomic research. Some authors have also criticized the lack of a systematic effort to remedy this. Although several initiatives have attempted to increase population diversity in research-oriented genomic databases, the number of genotyped participants resulting from these programs is still relatively small. The Exome Aggregation Consortium (ExAC), which some geneticists consider to be one of the most useful resources ever for variant assessment thanks to the wide range of ethnic groups represented, currently holds genetic data from around 90,000 people. Moreover, attempts to aggregate datasets from different provenance, as ExAC has done, come with its lot of thorny challenges. One is the amount of labor that is needed to ensure the compatibility of different datasets with a common data model before they can be combined.
The views, opinions and positions expressed by these authors and blogs are theirs and do not necessarily represent that of the Bioethics Research Library and Kennedy Institute of Ethics or Georgetown University.