With first Regeneron, and now a non-profit run by one of the company’s co-founders, set to acquire 23andMe, I wanted to share the reasoning behind my very personal decision to publicly release my genetic data, as well as my connection to genomics and privacy.
For a little background, I co-authored a paper back in 2008 that raised the question of if participants in large genetic studies could be de-identified. It had the unfortunate but important result of removing aggregate results of Genome-Wide Association Studies (GWAS) open-access databases (such as dbGAP), prompting a direct response for the Director of the National Institutes of Health, Elias Zerhouni.
More recently, I was a co-author on a paper describing methods for finding related individuals in large genomic databases. Those methods are used not only for forensic genetic genealogy, but also for law enforcement purposes (we’ve all heard of the arrest of the Golden State Killer in 2018). Having developed the methods, I believe I have a unique perspective and opinion on what’s possible. I have also helped large pharmaceutical companies perform risk assessments when making genetic data public as part of publications, as well as part of commercial collaborations. What’s impossible now is one new method away from being practical.
I’ve probably overdone it on my genetic data. I had 23andMe genotype my DNA in 2011, and then perform exome sequencing of my DNA in 2012. I was lucky enough to join the Personal Genome Project (PGP) as one of the last participants, having my whole genome sequenced via Complete Genomics in 2017. In 2019, I had exome sequencing done by Helix and whole genome sequencing by Dante Labs. I first began uploading my data in 2014 to the PGP website, with all the aforementioned data publicly available there.
Could I or someone related to me be discriminated against using my public genetic information, in particular by insurance companies or employers? Sure (e.g. GINA has an exemption for employers with fewer than 15 employees). Could I or someone related to me be more easily found based on my public genetic data? Sure. So why did I choose to make my data public? I agree with the Personal Genome Project: that guaranteeing privacy is impossible, and since the right to privacy includes deciding how to control my own data, I wanted to make it public. I wanted to play my part, albeit a very small part, in furthering the understanding of the genetic basis of human disease. I am optimistic that it can help.
Since I have made my data public I have had two kids, who now have 50% of their genetic information public, out of no choice of their own. And that doesn’t consider the rest of my extended family. I do have some anxiety over if this will impact them negatively. But already so many important discoveries using genetic data have impacted human health so incredibly. Personally, I have fought and won a battle against cancer, using genetic testing along the way. My livelihood here at Fulcrum Genomics is based on genomics research, with a core value of our work benefiting the broader community. I am part of this community, as a participant, researcher, and patient. I belong here, and so does my DNA.
I want believe that both Regeneron, the TTAM Research Institute, or whoever ends up owning the physical samples and genetic data from 23andMe are altruistic, moral, and will do the right thing. I hope they will. I ask that they will. I will be watching.
But my data are public. I cannot take that back, and I don’t want to. Not only will the acquirers of 23andMe be able to use and benefit from my genetic data, but so can anyone else. I hope this levels the playing field. I hope treatments, cures, and diagnoses happen faster. I hope I am helping.
