"We found that in the 25-patient pilot study that we did, that the accuracy was about 98% of what a standard sequencer would offer," says Deepak Kapoor, MD.
In this video, Deepak Kapoor, MD, highlights the background and findings from the study, “Accuracy of a Simplified Sequencing and Bioinformatics Platform on Genetic Variant Detection in Prostate Cancer Patients,” which was presented at the 2023 American Urological Association Annual Meeting in Chicago, Illinois. Kapoor is the chairman and Chief Ecosystem Officer for Solaris Health Holding, LLC; a clinical professor of urology at the Icahn School of Medicine, Mount Sinai; and market president of Advanced Urology Centers of New York.
At the practice in New York, Integrated Medical Professionals Advanced Urology Centers of New York, we have become the first independent practice to my knowledge that has the capacity to perform germline testing, and we are going to be rolling out somatic testing, as well. We have started doing this across the board in other affiliates in Solaris. But one of the challenges that's associated with genetic testing, which is a crucial component of precision medicine, is that it requires expensive equipment, both in terms of capital and maintenance, and highly sophisticated staff to run. In order to be able to do this, it is an expensive and resource intensive endeavor. The problem is that we see in the United States that probably a fifth to a third of patients that are candidates for genetic testing actually receive it. And we see that across the world, it's even less. If you don't have access to this test, you're missing out on something that's clearly evidence based and required by best practice guidelines. What we wanted to do is see whether or not there was a way in a less resource intensive fashion, that we could bring this sequencing capacity to smaller, more remote clinics, and frankly, also to areas of the world that don't have it. Fewer than 2%, for example, of eligible candidates in Africa get genetic testing. They simply don't have the equipment or, in places that have the equipment, they don't have the ability to transport the specimens. We formed a partnership with a company in Israel, Foresee Genomics, who developed a novel bioinformatics and molecular extraction platform. We are, in New York, the only beta site in the United States where we're performing the laboratory validations on the sequencer compared to a conventional sequencer. You need to have conventional sequencing capability along with the experimental facility. We're comparing the w together.
We're using a chip. It's called an Oxford Nanopore. It's something that's commercially available, but we're coupling it to a completely novel bioinformatics platform. We found that in the 25-patient pilot study that we did, that the accuracy was about 98% of what a standard sequencer would offer. Now, again, it's not the same as a standard sequencer. It certainly does not have the same depth of coverage, and you can't do the same number of genes. But if you're only going to run the genes that have known cancer characteristics, like for example, you have to report 10 genes for prostate cancer for NCCN. It certainly is capable of doing that and the fact that you could have 98% detection on even our first validation run was very, very gratifying.
This transcription has been edited for clarity.