This is a short conference talk by Balaji Srinivasan describing the founding and development of Counsyl (a company he co-founded) to build a comprehensive pre-pregnancy genetic screen for Mendelian conditions. He outlines the preventive value of carrier screening, the initial idea to use falling sequencing/genotyping costs, unexpected operational and regulatory challenges (validation, regulatory, insurance, clinical integration, supply chain, robotics), and reports outcomes: rapid scale-up to a large clinical genomics center covering ~13% of US births, identification of >1,000 at-risk couples, and >$100M saved for the healthcare system.
Now our final and third opportunity of the day to hear from our innovators under the age of 35. And this track will be opened by Enrique Lomnitz, or Lomnitz, the director of Isla Abana.
Except it's not me. Okay, sure. He's my brother. Thanks. Okay, everybody. So five years ago, several of my colleagues and I left Stanford to do something which at the time we thought would be a fairly simple idea, which is to build a single pre pregnancy test for all Mendelian conditions. Now the thing about Mendelian conditions, as you may remember from high school biology, is that they are conceptually simple, but they have serious consequences. And the thing about them is if you can do a test before pregnancy and you've got a couple that's at risk, that has carrier alleles, recessive alleles for two Mendelian or for Mendelian condition, 25% of their children are potentially going to have this condition. And if you test them beforehand, you can do something for example called in vitro fertilization plus pre implantation genetic diagnosis. You can actually implant an embryo that will not have the condition. So there's a preventive step that you can take if you can do this test. And so our thought, in theory, our idea was just use new sequencing and genotyping technology. There's this incredible decrease in prices due to the supra exponential decline faster than Moore's law. And there's tests for sickle cell and cystic fibrosis and Tay Sachs, but there's actually also a long tail of Mendelian diseases, many individual diseases which are collectively quite frequent. And so the idea is this is what we're going to do. And being Stanford guys, we went and started a company named Counsel to this. And that was the theory. In theory, though theory and practice are the same, in practice, not so much. And so you know, the computational biology and molecular biology, that was the easy part. I wish we had just had to do integrals of Gaussians. But to actually validate the test, to get through regulatory, to get insurance coverage, to do clinical integration, to set up a support infrastructure and a genetic counseling infrastructure to counsel our patients that tested positive, to build a supply chain for all of these delicate reagents and finally, finally to build out the robotics infrastructure was actually much more than we had bargained for at the beginning. We ended up basically building a robotic sequencing factory, probably the first of its kind. Runs 24, 7, it's fully automated, just runs all the samples through. Because to do something single handedly with a pipette is one thing, but to scale it up to tens of thousands of patients, hundreds of thousands of patients a year, is quite something else entirely. So as of today, we are now one of the largest clinical genome centers in the world. We're doing 13% of all US births, up from 0% three years ago. We've identified more than 1,000 couples that were at risk for Mendelian diseases. And we've saved the healthcare system more than $100 million for both parents and children. So that's me. I'm Balaji Srinivasan. I'm the co founder of Council. Thank you.
