Dr Stephen Kingsmore Speaks About the Future of Newborn Genomic Sequencing

Stephen Kingsmore, MD, DSc, president and CEO, at Rady Children's Institute for Genomic Medicine, details the progression of the BeginNGS newborn genomic sequencing program as it approaches the end of phase 2. He explains the basis of phase 1 consisted of determining the program's feasibility and also how it will be expanded in phase 3.

Transcript

Can you discuss phase 1 & 2 of the BeginNGS program and the significance of adding to the newborn genomic sequencing?

Yes, about a year ago, we were just finishing phase 1 and that was pure research. "Could this be done?" was the big question. "Was it even feasible, or was it still a pipe dream?" And remember, we're not the first people to try to do this, people have been talking about doing this—like Francis Collins, the previous director of NIH—and talking about doing this since 2010. It was part of the promise of the Human Genome Project, which finished in 2003. So, people have tried, and they failed because the technology wasn't ready yet. It was either too expensive, or our knowledge of genetic disease causes—the variants that we pick up on a genome—that information was not mature enough to do this.

A year ago, we finished phase 1, where we showed, "Hey, this works." By works, we said it's 89% sensitive, and it's 99.7% specific. And hitherto that been a problem—that it’d either been insensitive, so you miss a lot of true positives, or that it lacked specificity, which means you were plagued by false positives. So that was phase 1; it was a research test that was validated in historical datasets, and we published that to say, "Hey, this is now technically feasible."

Phase 2, is the start of the next journey, which is to get it ready for clinical evaluation, and then implementation in the country. So, phase 2 has been about hardening up the test, expanding the test—the first version had 388 disorders; the new version has 411. And some of the disorders that were on previously, we let go. They weren't things that we should be screening for, and we've hardened up the test so that it's more repeatable. It's moving from research to being a clinical diagnostic product. It's not quite there yet, but it's getting better and better.

In addition, we started our first clinical trial. It's an exploratory clinical trial and it's designed to inform us so when we move to a big clinical trial, which will be 100,000 babies, we will be prepared for that. So today, we've enrolled 46 babies who are not suspected of having a genetic disease, using this test, and we are evaluating it prospectively. So that's phase 2. It will finish up in the next couple of months and then we'll be into phase 3, which is our big clinical trial, and it will be using a clinical diagnostic version of the BeginNGS test.