The power of large numbers: frequencies of rare pathogenic mutations in the 23andMe database. E. R. Chang, D. A. Hinds, N. Eriksson, J. M. Macpherson, C. B. Do, B. T. Naughton 23andMe, Inc., Mountain View, CA.
23andMe, with over 150,000 genotyped customers, is in a unique position to accurately estimate the carrier frequencies of rare pathogenic mutations. Accurate, population-specific estimates of mutation frequencies facilitate effective and efficient carrier screening. We present population-specific carrier frequencies for several rare, autosomal recessive conditions. 23andMes large database, consisting primarily of research participants not selected for any particular disease phenotype, reveals that some mutations that were thought to be associated only with certain populations are also present in additional populations at comparable rates. For instance, the mutation G269S, a late-onset Tay-Sachs mutation, was thought to be found predominantly in individuals of Ashkenazi ancestry. Our data suggest, however, that this mutation occurs in individuals of Eastern European ancestry at a higher frequency than in individuals of Ashkenazi ancestry. Such findings demonstrate the power of a large genetic database in which information about genetic ancestry, self-reported ancestry, and country of residence are all used to estimate population-specific and clinically meaningful statistics.
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