23andMe, NIH Work to Reduce Health Research Disparities Among African Americans

October 13, 2016

New NIH grant fuels creation of African American sequencing panel for genetic research

Mountain View, California – October 13, 2016 – 23andMe, Inc., the leading personal genetics company, today announced a new grant from the National Institutes of Health (NIH), for the creation of a genetic resource for health research in African Americans that could improve the understanding of diseases in minority populations.

The $1.7 million grant, issued from the National Human Genome Research Institute, will go toward leveraging 23andMe’s data on more than one million customers who have consented to participate in research, creating an African American sequencing panel to be used as a reference dataset for health research. The de-identified genetic data will be made available to other health researchers at institutions around the world.

“This project aims to help address health research disparities, specifically for African Americans,” said the project’s Principal Investigator, Adam Auton, a 23andMe senior scientist and statistical geneticist. “The hope is that this work will help improve our understanding of disease-causing genetic variants in minority populations, and that this in turn could improve treatments among people with non-European ancestry that have historically been underrepresented in health studies.”

Some estimates from five years ago showed that more than 90 percent of the research into the genetics underlying disease has been conducted on people of European ancestry. In a commentary published in Nature researchers from the University of Washington say that there has been some progress, but not much. While there are more genome-wide association studies being done on non-Europeans, the degree to which people of African, Latino or Native American ancestry have been studied has barely changed. This week a new study by researchers from the University of Maryland School of Medicine lays out the stark implications of that bias that limits the ability to treat minority populations.

But 23andMe researchers believe they can address this disparity. Within the company’s customer base are a very large number of people with non-European ancestry, who have also consented to participate in research. By sequencing the genomes of African American 23andMe customers, our scientists hope to spur more health research on disease affecting minority populations.

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 depend on a standard method called “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 sequence panels — can predict, orimpute, the missing letters of genetic data. A very simplified example of the same basic idea would be to fill in the blanks of this phrase: “I l_ve N_w Y_rk.”

This process of using large numbers of sequenced genomes together with imputation is what powers most genome-wide association studies today. It allows scientists to glean much more information on the data they have without the cost of having to do whole genome sequencing on everyone participating in a study. This, in turn, allows them to do much larger studies that can reveal more about the disease or trait being studied.

The problem is that most sequenced genomes available today are predominantly for people of European ancestry, limiting the accuracy of imputation for non-Europeans. But because of the large number of 23andMe customers who have consented to research — including tens of thousands of African Americans –scientists will be able to create a new panel of sequenced African American genomes. Under this grant, 23andMe researchers 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 panel. 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. In April of this year, 23andMe was awarded another NIH grantto 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. This fall, the company has created an African Genetic Project to recruit people from sub-Saharan Africa, that, among, other things, will improve our knowledge of African genetic diversity.

“We want everyone to benefit from advances in genetic science,” said Anne Wojcicki, 23andMe CEO and co-Founder. “We know that there is a huge disparity in health-related genetic research and now we have an opportunity to help change that and ensure that the study of disease and the development of drugs will benefit us all, no matter what our ethnicities.”


You can read more about this grant, A New Reference Panel To Boost African American Genotype Imputation, (#1R44 HG009460) on the NIH’s website here. The projects described above are solely the responsibility of the authors and do not necessarily represent the official views of the National Institutes of Health.

About 23andMe

23andMe, Inc., headquartered in Sunnyvale, CA, is a leading consumer genetics and research company. Founded in 2006, the company’s mission is to help people access, understand, and benefit from the human genome. 23andMe has pioneered direct access to genetic information as the only company with multiple FDA clearances for genetic health reports. The company has created the world’s largest crowdsourced platform for genetic research, with 80% of its customers electing to participate. The 23andMe research platform has generated more than 180 publications on the genetic underpinnings of a wide range of diseases. The platform also powers the 23andMe Therapeutics group, currently pursuing drug discovery programs rooted in human genetics across a spectrum of disease areas, including oncology, respiratory, and cardiovascular diseases, in addition to other therapeutic areas. More information is available at www.23andMe.com.