It takes more than a village
If it takes a village to raise a child then it takes the whole world to help a child with a genetic disorder. Data sharing is critical to any research study, large or small. Fortunately, the internet has created an incredible shift in genetics research, empowering both patients and scientists. As more and more people have access to their own genomes, citizen scientist has taken on a new meaning and more crucial role than ever before.
Although sequencing has become increasingly affordable, cost can still be prohibitive. We launched DNA Land to crowdsource data and work together with the general public on large-scale genetic studies. Rather than spending money to sequence more people for such studies, we want to harness data that already exists.
Last week, I presented the motivation for launching the site at RootsTech, the world’s largest genealogy conference, in Salt Lake City, UT. Human genetics is inherently personal, so I began by sharing the findings of my first research project in the lab. Briefly, we identified a family with a rare, complex craniofacial disorder, the findings of which would not have been possible without data sharing (specifically, from more than 400 healthy controls), some genealogy (discovering an additional relative that allowed us to rule out mutations), and a collaboration among scientists in Massachusetts, California, Pennsylvania, and Israel and, incredibly, with the family in the study. Academic papers don’t include a section for the more personal side of research but you can read the short version and some behind the scenes details in the blog post.
This study is just one small-scale example of the necessity of collaboration among scientists and between scientists and patients. DNA Land is a hub to bring together these essential topics and, most importantly, to use data for good while giving back to our incredible community, for free. So how did we do?
DNA Land was launched on October 9th at the American Society of Human Genetics conference and we were thrilled when our user total hit the double digits.
Within 24 hours, we had more than 1500 genomes, well beyond our expectations. DNA Land is nothing without our more than 14,000 users and we are beyond grateful for the feedback we’ve gotten in the past few months and are indebted to our early adopters.
We care about the DNA Land community and put a lot of thought into our consent, creating a document that users could read in a matter of minutes and meaningfully check the box at the end. The positive response (lateral mag and legal genealogist) was incredibly encouraging. Trust is important and we are in this together.
-Sophia Frentz, Lateral Mag
Initially, we returned ancestry information, relative matching, and imputed genomes. I was excited to reveal 2 new features at RootsTech based on suggestions from DNA Land users. After getting IRB approval it’s now possible to import family trees from Geni.com and see ‘relatives of relatives’. This new report displays relatives who are too distant to be discovered directly by shared segments (only after explicit consent to share the results).
Collecting data is not enough. We have experience with crowd-sourced data from more than 40 million public geni.com profiles (see our previous post). Importantly, we demonstrated that large-scale, user-generated data is scientifically actionable. This was only pedigree data; imagine what we can do with ancestry, genotype, and phenotype data.
Rule your genome: democratize health. We need public data to enable science and better understand human heritage and health. Together, we can change the way we study genetics and importantly, it can be fun!
image credit: Victo Ngai
