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Study to Test Increasing Ethnic Genetic Disease Diversity

Diversity graphic

(Clker Free Vector Images, Pixabay)

5 April 2016. The personal genetics company 23andMe is beginning a study to test techniques for increasing the diversity of disease-causing genetic variations, which now overwhelmingly favor Europeans. The study is funded by a $260,000 Small Business Innovation Research grant from National Institutes of Health.

The study aims to provide better tools for genetics researchers that supplement genome-wide association studies, the standard means of identifying the underlying genetic basis for disease. A 2011 study published in Nature found that nearly all, 96 percent, of genome-wide association studies were of people of European descent. These studies succeeded in identifying associations between common genetic variations and diseases. But these variations explain only 5 to 50 percent of the diseases’ heritability, depending on the disease in question.

In this new project, 23andMe proposes to explore a technique known as admixture mapping, or more formally, mapping by admixture linkage disequilibrium. Admixed populations occur when historically isolated populations more recently combine, as is often found with African-Americans and Hispanics in the U.S., also descended from Europeans and Native Americans.

Admixture mapping seeks out areas in the genome that have an enrichment of one ancestral background in individuals with a disease. These genome regions can highlight risk variants that differ in frequency among the ancestral populations. Previous attempts to apply admixture mapping, however, relied on small samples that limit their representation of these populations at large.

The new study, funded by National Human Genome Research Institute at NIH, aims to take advantage of the company’s nearly 1 million customers that consent for their data to be used in this kind of research, to overcome the earlier small-sample limitations. The 23andMe databases of genetic factors and individual observable traits includes information from more than 68,000 people of Hispanic origin and 34,000 African-Americans. In an earlier phase of the project, also funded by an SBIR grant, 23andMe in Mountain View, California upgraded its data collection and management tools to better provide for greater ethnic diversity.

The research team led by computational biologist Kasia Bryc, plans to study people with admixed backgrounds in 23andMe’s databases having certain diseases in common. The investigation aims to reveal shared ancestries located in common regions of these individuals’ genomes, testing if these genetic regions of shared ancestry can be associated with diseases in common. These findings Bryc notes in a company statement, “could help reduce the research disparities among groups in the United States and elsewhere.”

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