Au cours de ces deux journées de conférences, des chercheurs du monde entier sont venus présenter l’état de leurs recherches et de leurs réflexions autour de la révolution de la médecine personnalisée.
Parmi eux : Bastian Greshake, surnommé (l’anti) Mark Zuckerberg de la génétique libre (lire l’excellent article de Dorothée Browaeys sur le sujet), co-fondateur du projet OpenSNP : La première plate-forme open source de partage de génotype humain.
Mais comment se manifeste concrètement la « génétique libre » ? Quels sont ses enjeux, et comment intervient-elle en complémentarité de la recherche « officielle » ?
Echange avec Bastian Greshake, « biohacker » et citoyen du monde avant tout !
First off all, could you introduce yourself to our readers ?
Sure, my name is Bastian Greshake and I’m an evolutionary biologist who went into the world of bioinformatics. I’m currently in the process of finishing up my PhD, working on fungal genomics. When I’m not looking into fungal genomes I also like to play around with data of human genomes and thinking about how to make sure that human genomics is a field that’s accessible to as many people as possible.
« When I got my personal results I really wanted to share them with the world, so that scientists all over the globe could access it »
You created, a few years ago, OPEN SNP. What for ? Who with ?
Back in 2011 I got my own genome analyzed by 23andMe, a company that sells genetic tests to end customers in the same way that Amazon sells books. You order it online, and a couple of days later you get a sampling kit in your mail. You send your saliva to them and after a couple of weeks you get your test results. When I got my personal results I really wanted to share them with the world, so that scientists all over the globe could access it. Unfortunately there was no central place to do that. That’s when I got the idea that one might start such a genomic library, together with a friend who was also transitioning from pure biology into bioinformatics at the time.
We developed our idea a bit from there on. Instead of only collecting the genetic data of people, we also allow each user to give as much data about their bodies as they feel comfortable sharing. The idea there is that this data can be used to find some association between ones genome and personal traits (called phenotypes). Some people give just their hair or eye color, but many also give medical details, like cancer status. And as everybody can make up new categories we also get stranger things, like whether people sneeze when they experience an orgasm or what their political ideology is. As such openSNP was build with the idea that researchers have a growing data base to use in their own studies, hopefully accelerating scientific progress.
« Then there are people who have a more invested interest, as they are having some (potentially) genetic disease and they want to help in speeding up research »
How was Open SNP received ? Who are the users ?
The reception by and large was much more positive than we had expected. All the data that goes into openSNP is donated into the public domain, so there is no limits for how the data can be used or by whom. As such there is no expectation of genetic privacy once the data is shared on our platform. Which for many people is a scary outlook. For that reason we initially thought that not many people would be willing to share their data. But that actually seems not to be the case, as there are hundreds of people willing to participate nevertheless. Our users cover very different populations. Of course a good part of our users are reseachers, who are interested in using the data provided by openSNP. Some of these also donate their personal genomes. Besides them we find a very diverse set of people donating data. It’s individuals who are just happy to share their data, either because they want to help science or because they are curious of what will happen with their data. Then there are people who have a more invested interest, as they are having some (potentially) genetic disease and they want to help in speeding up research. And we also have many enthusiasts who want to learn about human genomics and use the data to educate themselves.
« We also see that the data is getting used more and more, not only in Academic science, but also by students who are using the data in their university courses or to write their theses on it »
What about OPENSNP today ?
Since 2011 we have grown a lot in size. Right now our database contains over 3000 genetic data sets. While most of these people come from Western Europe or Northern America, our database does contain participants from all over the world, covering all continents. And the trend for our growth looks good too. We also see that the data is getting used more and more, not only in Academic science, but also by students who are using the data in their university courses or to write their theses on it. Last but not least we are also super happy to see creative uses of the data, for example in art projects.
On the side of running openSNP we have also grown, as more and more people have joined in our efforts of running the project. And thanks to our donors (you too can become one here: https://www.patreon.com/openSNP ) we can nearly pay for all of our monthly expenses for running the service without paying too much out of our own pockets. In that sense openSNP has grown into a great community of people running the project, donating data, time and money, to make sure it keeps thriving.
« (…)I really fear that we – the scientific community – are not working hard enough to make sure that our scientific progress is benefitting as many people as it could and should »
How do you see the future of genomics? In your opinion, what would be the worst scenario ?
So far we luckily haven’t seen widespread genetic discrimination on the immediate level, despite all the fears that this might happen. Discrimination by employers, insurance companies and so seems to be no big issue as it is right now. But I fear we are already planting the seed for a different and deeper kind of genetic discrimination: Most of genomics research, especially in a medical context, is done on the same kind of Western European/Northern American people I talked about earlier. And as most of these findings don’t generalize to populations around the globe it means that much of our medical genomics progress will – globally speaking – only benefit a very limited set of people. In that sense much of our current medical genomics research is reproducing the traditional lines of privilege. For that reason I really fear that we – the scientific community – are not working hard enough to make sure that our scientific progress is benefitting as many people as it could and should.
Pour accéder aux présentations de Bastian Greshake lors du symposium, c’est ici
Pour en savoir plus sur les initiatives en France, nous vous proposons de consulter le site de La Paillasse.