Personal Genomics Open Access Datasets Even More European-Biased Than Scientific Literature? – Taking Genomics Personal

"A recent article published in Nature on October 13th 2016 [1] indicated that population bias in the genomics field is still rampant. As Popejoy and Fullerton point out in their article, many populations lack access to the benefits that precision medicine aims to offer. In their study, the authors analyse the ancestries of individuals in the GWAS catalogue [2] (a catalogue of published PubMed GWAS studies to date) to understand the current representation of different populations in GWAS studies. Their main finding is that so far 81% of all individuals in these studies are from European ancestry,14% Asian and 3% African.

Inspired by these findings, we used the Repositive platform [3] to find open access 23andMe genotypes available throughout the Internet. We hypothesise that 23andMe genotypes can be a proxy into the population who currently have undergone direct-to-consumer (DTC) personal genetic tests. 23andMe data files can be found distributed in a number of repositories, their formats tend to be standard and their capability for estimating genetic ancestry sufficient [4]. Table 1 shows the repositories indexed by Repositive from which we have collected 23andMe datasets. From a total of 3,100 23andMe individual raw data files that Repositive scouted, we selected those that map to the GRCh37 genome build, totalling 2,402 files."