It is noted by Hindorff et al. (2018) that the majority of populations studied in Genome-Wide Association Studies (GWAS) are of European ancestry, meaning that there is an underrepresentation of populations with non-European ancestry. This lack of diversity has had particular implications for the clinical applications of genomic studies, as it can lead to the incorrect classification of particular genomic variations as pathogeneic, as opposed to being widespread in certain populations, when a sample from only one population or particular ancestry is considered (Hindorff et al. 2018).
There have been some efforts to try to increase the diversity of the individuals sampled in genomic research, however, individual participation is also influenced by many factors such as socioeconomic background, potential negative associations with health care institutions, or linguistical barriers (Hindorff et al. 2018). Therefore, Hindorff et al. (2018) note that when designing studies to try to increase the diversity of genetic samples that these factors should be kept in mind. Hindorff et al. (2018) also suggest that increasing the diversity of populations sampled may have beneficial clinical implications due to the investigation and identification of novel variation, as well as causal variants for particular pathological conditions.
Click here for the article.
References
Hindorff, L.A., Bonham V.L., Brody, L.C., Ginoza M.E.C., Hutter, C.M., Manolio T.A., and Green, E.D., 2018. Prioritizing diversity in human genomics research. Nature Reviews Genetics. 19: 175-185.
Second post from Nature Reviews Genetics.
Victoria Lockwood
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