Isabl’s Rapid Whole Genome Analysis Opens Cancer Treatment Guide – TechCrunch

Every gun is unique because everyone is unique, and one of the most important weapons in cancer fighting is information. Isabl It provides it abundantly through rapid sequencing of the entire genome of cancer cells and potentially indicates which treatments are effective within a few days. The company has received a breakthrough designation from the FDA and has raised $ 3 million to bring that approach to market.

Over the last decade, commoditization of genomic processes from sequencing to analysis has brought about many medical advances. Cancer treatment is no exception. In fact, understanding these genes is a particularly promising research line, as cancer is a (simplified) gene mutation that has become unmanageable.

Panel tests look for mutations in the selection of hundreds of genes in the DNA of cancer cells that are known to affect prognosis and clinical strategy. For example, cancer may have certain mutations that are susceptible to radiation therapy but resistant to chemotherapy and vice versa. Knowing which one is very helpful.

Isabl co-founder and CEO Elli Papaemmanuil explains that no matter how useful panel testing is, it’s just the beginning.

“These tests have been very carefully designed to look for the most common mutations and have revolutionized cancer diagnosis in common cancer patients,” she said. “But patients with rare cancers, and what we define as rare cancers, are still one-third of patients, but they do not benefit from them.”

Even many people with common cancers may find that their condition is not associated with mutations in these most predictive genes. The relevant gene is somewhere else in 2 billion base pairs. Current tests examine only about 1 percent of the genome.

Technology exists to look at the other 99%, but historically it was more expensive and time consuming than panels, and the analysis of the resulting large amounts of data was just as difficult and time consuming. But Isabl’s tests show that it’s definitely worth it.

Image credit: Isabl

“We found that whole-genome sequencing can detect many clinically relevant findings. It is a result of action based on this. today.. And what we have done is to develop a platform that allows doctors to read and summarize it in a single day, “Papaemmanuil said. They call it a “clinically viable whole genome and transcriptome test” or cWGTS.

The company was founded from a study conducted by Papa Emanuil at Memorial Sloan Kettering, a link between cancer treatment and science in New York. “I was able to see all these successes from the panel test and then all these patients who did not benefit, but my lab had the skills and know-how.” She remembered. They collected and combined three different datasets. Germline (ie patient) genome. The genome of a tumor, and its transcriptome, essentially what the body produces from the transcription of DNA.

“This gives us a complete picture of the tumor profile,” she said. “Rather than having a classifier or model to annotate mutations [i.e. an automated panel test]There is an analysis that integrates these three layers to interpret the role of mutations and their association with each tumor type. “

Although we own the entire process from sampling to reporting, Isabl’s key advance is the database, so “there are no technical obstacles to making this solution currently available, and we do it. We have demonstrated that we can do it on a large scale, “Papaemmanuil said. But in the medical world, just because it’s possible doesn’t mean it’s allowed. The FDA has given this technology a “breakthrough” status. This is a fast track, but even the fast track is slow in the federal government.

Full clinical approval is probably 3-5 years away, but much faster than the industry estimates for 5-10 years for this type of application. However, research is underway that has just published a main paper demonstrating the process, both for validation and other purposes. Today at Nature Communications.. (This study focuses on cancer in children and young adults, but the technique is not limited to their demographics.)

“Seed rounds are very helpful in running the roadmap, which is a good starting point for the necessary evidence and approval,” says Papaemmanuil. “We are already working with a cancer center to do research, and most importantly, ask oncology scientists what they need and how they want the data.”

From left, Isabl co-founders Andrew Kung, Elli Papaemmanuil, and Juan Santiago Medina.

The $ 3 million round was led by Two Sigma Ventures, which was attended by Y Combinator, Box 1, and other companies. The co-founders of Papaemmanuil are CTOs Juan Santiago Medina and Andrew Kung.

She also revealed that Isabl’s research will be openly conducted. “We have a very strong scientific foundation and are willing to publish our work. The data needs to be public and accessible in a way that allows for further research.” She said. The self-enhancing play of creating and identifying predictive data can prove to be a very valuable resource across many areas.

Isabl is an example of the power of more or less pure data playback in industries that are often associated with lab advances. Of course, it took a lot of lab work to create it in the first place. However, if automation of a major process (in this case DNA transcription) can significantly improve data capture, it is always worth it. In this case, its value can save many lives.