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With the help of a grant from the National Human Genome Research Institute, 23andMe scientists will use contributions from customers who’ve consented to participate in this research to create a reference dataset and make the de-identified genetic data available to other qualified and vetted genetic researchers at educational and research institutions around the world.
“We are very excited about this project and its potential to make a difference in people’s lives,” said the project’s Principal Investigator, Adam Auton, a 23andMe senior scientist and statistical geneticist. “This work will help address the genetic research disparities for African Americans in particular, something that has long needed attention.”
Only a fraction of the genetic research studies done to date include people with African ancestry. According to recent data focusing on this disparity, only about 19 percent of all published genetic research includes data from non-Europeans, and only about two percent are conducted on those of African ancestry. While the bias towards European studies reflects many complicated logistic, systemic, and societal issues, it has a huge impact on what scientists can determine about the genetics underlying diseases and other conditions that impact not just non-European populations but everyone. A recent study by the University of Maryland School deftly explains the implications of these disparities:
“As long as ancestry-related biases are not addressed, and most studies continue to predominantly sample from European populations, the genetics community will face challenges with implementation, interpretation and cost-effectiveness when treating minority populations.”
To help address these disparities, 23andMe is recruiting African American customers who are are willing to have their genome sequenced. Those who are interested would then be asked to complete an additional level of consent, that would allow 23andMe to add their de-identified genetic data to a library of genetic and phenotypic data. This means the library would not receive any personally identifiable information connected to the genetic and phenotypic information. This library of data is managed by the NIH and used by qualified scientific researchers.
As part of this work we will ask a subset of our African American customers, who have consented to participate in research, if they would be willing to participate and have their DNA sequenced to become part of this reference panel. Reference panels are important because they allow scientists to improve the accuracy of genome wide association studies, which drive much of genetic research conducted today.
When a customer of 23andMe sends in their saliva sample, they are genotyped at hundreds of thousands of sites that are known to vary between individuals. However, there are tens of millions of variable sites in the genome that are not genotyped. By having access to a large number of fully sequenced genomes — a sequence panel — researchers are able to use “genotype imputation” to infer or predict the genotypes at these unobserved positions. Much like a code breaker filling in missing letters in a message, scientists — using algorithms and data from whole genome sequences panels — can predict, or impute, the missing letters of genetic data. Having a sequence panel like this gives researchers a tool to study conditions that are specific to African Americans.
Ultimately, the sequence panel data will be shared with the NIH, who will make it available to other researchers. This in turn will expand scientists’ ability to make genetic discoveries for African Americans and help build a broader understanding of how genetics influence diseases and traits across multiple populations.
This is the latest in a number of efforts by 23andMe to help alleviate some of the existing disparities in genetic research. Last year, 23andMe was awarded another NIH grant to use “admixture mapping” as a means to improve the detection of disease-causing genetic variants among people of African, Latino and Asian ancestry. In 2011, 23andMe launched its Roots into the Future® project to study the genetics of disease specific to African Americans. The African Genetics Project is a part of this growing effort to improve our knowledge of African genetic diversity.