Delfi Diagnostics, Inc., a pioneering developer of next generation high performance, affordable liquid biopsy tests for early cancer detection, announced the start of enrollment for a nationwide prospective study and plans to commercialize an initial test in lung cancer before expanding into other cancer types. The Delfi lung cancer screening test, which combines advanced machine learning algorithms with genome-wide cell-free DNA fragmentation profiles, has received Breakthrough Device Designation from the US Food and Drug Administration, a program that provides feedback and expedited review to promising novel diagnostic technologies.

Based on recently published USPSTF guidelines1, annual lung cancer screening by low-dose CT scan is recommended for 15 million U.S. adults. However, due to poor access and low adherence, fewer than 10 percent of those individuals receive the recommended screening. Today, the vast majority of lung cancers are detected at late stages, when prognosis is poor. Researchers estimate that hundreds of thousands of deaths could be prevented world-wide through improved screening and early detection2.

“We think there is a clear unmet need to improve acceptability and access while decreasing risks of lung cancer early detection,” said Douglas E. Wood, MD., thoracic surgeon and chair of the surgery department at the University of Washington. “The average five-year survival for patients with early stage lung cancer is roughly 10 times greater than for patients that are diagnosed with late stage disease and we just aren’t catching enough of these cases early. An affordable, high performance, broadly available blood test could help increase screening rates and reduce overall lung cancer mortality.”

Building on groundbreaking findings published in Nature3, Delfi will be launching multiple prospective trials to develop the clinical data needed to support the launch of a test to increase screening rates for those at high risk of developing lung cancer. The first study, a 1,700-patient, prospective, case-control study has started enrolling individuals at several centers across the United States. The study will measure the Delfi test’s performance in a group of patients already known to have cancer, as well as a demographically-matched cohort of presumably healthy patients.

Delfi is developing a new class of liquid biopsy for early detection based on altered genome-wide fragmentation profiles, also known as “fragmentomes,” representing aberrant packaging of DNA in cancer cells. By applying advanced machine learning algorithms to these fragment patterns detectable at a low sequencing cost, Delfi is developing a highly sensitive and specific assay intended for wide and cost-effective distribution and adoption.

Additionally, Delfi has formed a partnership with NYU Langone to conduct multiple studies exploring whether the test could reduce mortality in other patient populations. Under the partnership, Delfi’s test will be studied to potentially increase the number of individuals who are eligible for lung cancer screening. Certain populations around the world, such as non-smoking Asian women, have a much higher prevalence of lung cancer than other demographic groups. Despite this, screening is not currently recommended by federal or international guidelines for individuals beyond high risk smokers. The NYU Langone studies will explore Delfi’s ability to detect lung and other cancers in these populations.

“The Delfi test represents a new approach to liquid biopsy and cancer screening that has already demonstrated high performance in retrospective studies,” said Kwok-Kin Wong, MD, PhD, director of Hematology and Oncology at NYU Langone’s Perlmutter Cancer Center. “We see great potential to apply the Delfi approach to new demographic groups where regular, accessible cancer screening could help find more cases earlier and reduce cancer deaths.”

“We are excited to begin these studies, which will not only pave the way for our first commercial products, but also give us a solid foundation on which to build future tests for other individual cancers and multiple cancers,” said Delfi CEO Victor Velculescu, MD, PhD.