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Note: I removed the word "rich" from the title following comments below about potential misinterpretation
This morning personal genomics company 23andMe launched an initiative designed to shift the balance in favour of participation of one non-European minority both in personal genomics and genetic research. The Roots into the Future project will recruit 10,000 African-Americans by offering volunteers free genetic testing, and full access to the results of their tests. The recruits will also be given an opportunity to participate in the same types of genetic research the company performs on its existing customers: basically, answering survey questions that can then be linked with genetic data to explore potential associations.
This is an important announcement. Personal genomics has, since its inception, been predominantly a game played by white people. An illustration: recent numbers on the ethnic breakdown of 23andMe customers indicate that of the ~81,500 customers with self-reported ancestry in the company's database a whopping 74.7% are primarily of European descent. African-Americans are particularly poorly represented in the customer base, comprising just 1.2% (compared to 12.6% of the total US population).
That's not to say that the personal genomics companies haven't already made efforts to broaden the genetic diversity of their customer base. 23andMe's founders appeared on Oprah in November 2008, and the company has made a rather determined effort to avoid too much pallid skin on its front page. Here's a screenshot from the company's home page in May last year (courtesy of the Wayback Machine):
Still, that 75% European number is a troubling one. A genetic revolution in healthcare is approaching - or at least that is the hope - and those who have received an education in the SNPs and haplotypes of modern genomics will be better-placed to take advantage. Right now, one of the best ways to gain insight into modern genetics is to dig deep into your own DNA; it would be a shame if such opportunities were only taken up by a select few with defective pigmentation genes.
Sadly, as was noted in a recent Nature opinion piece by Carlos Bustamante and colleagues, the dominance of European genomes is found in academic research facilities as well as the storage warehouses of personal genomics companies. A 2009 review found that just 4% of the participants in published genome-wide association studies had non-European ancestry. That's not only a tragedy from a social perspective - it also represents missed scientific opportunities.
African-American genomics presents both challenges and opportunities. Finding the genetic basis of disease in such admixed populations is more complicated than in relatively genetically homogeneous European cohorts, requiring extra care to avoid false positives due to population structure. The greater genetic diversity found in African genomes can also be poorly captured in some places by standard genotyping arrays. However, there are positives as well: the decreased linkage disequilibrium in African genomes means that analyses in this population can zoom in on the real causal variants more effectively than in European genomes, where the signal of association tends to be spread out over much larger regions.
23andMe is rapidly (and fairly successfully) rebranding itself as primarily a research company rather than a consumer genetics provider. By leveraging its customer database of both genetic and trait information (obtained from online surveys) the company has demonstrated that it can not only robustly replicate known gene-trait associations, but also discover completely novel associations. 23andMe recently published two completely new variants associated with Parkinson's disease, following on the heels of its 2010 publication of seven new variants associated with non-disease traits.
23andMe's ability to generate novel genetic associations will rely on continuing to explore niches largely neglected by mainstream academia. That means focusing both on traits considered "frivolous" (such as the ability to smell asparagus in urine), and on targeting populations that have not been well-recruited by other research groups. The company's new focus on African-Americans will complement existing campaigns targeting specific diseases (such as Parkinson's and sarcoma).
Does this herald a wave of additional campaigns by 23andMe targeted at other under-represented minorities? Maybe, maybe not - in an email, research director Joanna Mountain told me that the company wanted to focus on African-Americans for the moment, but would "continue to review the possibility of expanding this project to include other communities." She also confirmed that the company would be using its standard v3 chip for these analyses, rather than including additional content designed to capture African haplotypes more effectively. This may be a mistake, but not an irreversible one - the company can always go back to the DNA samples of customers (at least those who consent for their sample to be stored) for further testing. Finally, she gave a sense of the research priorities here: the company's "initial focus is on replicating results from previous genome wide association studies conducted in other populations, but we will also look for ways to improve ancestry interpretations of the data."
Overall this seems like a commendable initiative. It seems likely that - assuming the company achieves its recruitment goals - they will be able to contribute substantially to our understanding of disease genetics in a politically and medically important non-European population.
