NEW YORK – Precision medicine startup Aitiologic is developing a liquid biopsy assay and analysis platform that hopes to enable early disease detection by harnessing both the genetic and epigenetic signatures of cell-free DNA (cfDNA) from blood samples.
The Vienna-based company came out of stealth mode earlier this week with over €2.5 million ($2.77 million) in funding, and aims to provide a liquid biopsy test that "is not only able to detect the mutation but also pinpoint it back to the tissue of origin," said Aitiologic Cofounder and CEO Andreas Posch, with potential applications in oncology and noninvasive prenatal testing.
The company achieves this by combining epigenetic and genetic analysis with a cloud-based interpretation platform, Posch said.
Aitiologic's foundational technology is an AI-powered liquid biopsy workflow that was originally developed by Posch and his team several years ago at Siemens Healthineers. Aitiologic recently obtained an exclusive license from Siemens to further develop and commercialize the patented technology, he said.
On a high level, Posch characterized Aitiologic's assay as "a classical liquid biopsy approach adding the tissue-of-origin resolution to it," though he declined to disclose technical details of the test because it is still early in development.
Overall, the test's workflow involves harvesting cfDNA from a blood sample then sequencing it to simultaneously profile the epigenetic and genetic signals.
Data will be analyzed using the company's cloud-based interpretation platform dubbed Aitios, which will determine the tissue of origin for individual cell-free DNA molecules based on cell type-specific methylation signatures, while also examining their mutational signals for disease detection.
So far, the company has conducted what Posch called "promising" proof-of-concept studies involving a mixture of cells with various epigenetic and genetic profiles. The company does not yet have data from real-world samples, or data on assay sensitivity or specificity, he noted.
While Aitiologic has used Oxford Nanopore Technologies' sequencing platform "quite a bit" in developing the assay, Posch said the ultimate goal is to make the technology platform-agnostic, as long as the sequencing approach can simultaneously generate epigenetic and genetic data.
That said, single-molecule sequencing technologies such as those from Pacific Biosciences and Oxford Nanopore are in principle suitable for Aitiologic's assay. However, Posch acknowledged there are still hoops to jump through using either platform, considering their current throughput, cost, or error profiles.
"The honest answer is neither technology is ready yet for prime time in liquid biopsy, although they both have the potential," Posch said. However, he believes the sequencing solutions "will be there over the next couple of years," and the company is hoping to capture the market opportunities when the time is ripe.
It also remains to be seen how Aitiologic plans to enrich cfDNA molecules — which are typically smaller in size and found at a low concentration in blood — for PacBio or nanopore sequencing, which tend to have higher input requirements. It will also be important to preserve methylation signals in these samples.
Posch said the company is now working to benchmark the technology in patient samples, hoping to further demonstrate the test's feasibility and utility by 2025. After that, the company will move forward with a lead program in potential applications such as prenatal or oncology testing.
The company plans to first introduce the technology for research use only, Posch said, and deploy it into the clinical setting as a lab-developed test.
Aitiologic is one of many companies that hopes to harness epigenetic and genetic signals in cfDNA to help detect and locate diseases. In oncology, where such an approach has advanced the furthest, prominent companies include Grail, Guardant Health, and Exact Sciences. Meanwhile, the application of these technologies outside of cancer is still nascent.
Aitiologic's €2.5 million in funding includes non-dilutive grants from the Austrian Promotional Bank and the Austrian Research Promotion Agency as well as investments from Push VC and Lana Ventures. With the money raised to date, the company, which currently has seven full-time employees, plans to continue to ramp up R&D for both its assay and software. Aitiologic is also hoping to raise more funding in 2025, Posch said, though he did not disclose a target amount.
"We believe we have an exciting technology foundation," Posch said. "We're still at an early stage, and we definitely are working towards the upcoming R&D milestones."