A Brief Glimpse Into The Ancestry Of Biobank Participants

By Jonathan Shortt, PhD and Chris Gignoux, PhD

As humans spread throughout the world, human populations underwent numerous cycles of dispersal, settlement, and mixture, resulting in each population having its own unique genetic makeup. Although every population is constantly changing, the genetic signal of many of these early populations persists today in living people, often in the very regions where these populations settled, and this enables us to identify a living person’s genetic ancestry even if they live far from where their ancestors lived.

You’ve probably heard of companies like 23andMe or Ancestry.com that test your DNA and provide a summary of your genetic ancestry for a fee. At the Colorado Center for Personalized Medicine, we are developing a way to generate genetic ancestry results for each Biobank participant. This information is invaluable to researchers using Biobank data, because it is important for informing research questions, but we also hope to give consenting Biobank participants an opportunity to receive this information at no cost to them.

The process of generating genetic ancestry information is complicated; we must be sure that the results we generate are accurate, but we must also determine the confidence we have in each result. In addition to these results, we will provide educational materials that will help Biobank participants know how results were generated, and how to interpret them.

In the meantime, here is a brief glimpse of the genetic ancestry of our first 4,000 genotyped participants. In the figure above, we show the percentage of these participants that have genetic ancestry from each of seven regions of the globe. We plan to tailor specific ancestry analyses to best reflect the ancestry of individuals from different groups from all over the world. This will ensure that we can get accurate ancestry information for each and every participant.

We look forward to providing periodic updates to inform you on our progress.