Over the next several months, we will highlight innovations from the past decade at The Johns Hopkins University to illustrate the depth, breadth and impact of research from the university’s many divisions and disciplines.
Building on a breakthrough by researchers at the Johns Hopkins Kimmel Cancer Center, DELFI Diagnostics develops and commercializes next-generation liquid biopsy tests to detect cancer early.
Doctors have long known that when cancer is found early, treatments are more likely to save lives. The Kimmel team was looking for ways to improve early detection based on their pioneering work in cancer genomics. That’s when Victor E. Velculescu, M.D., Ph.D., professor of oncology and co-director of the Cancer Genetics and Epigenetics program at the Johns Hopkins Kimmel Cancer Center, and Robert B. Scharpf, Ph.D., associate professor of oncology, developed the DELFI approach.
The method combines machine learning (a form of AI) with analyses of the physical properties of free DNA in the blood to create an approach known as DNA fragmentomics. Rather than searching for a mutation in a blood sample, which may not be present even if a person has cancer, the researchers found a better way to analyze what was already in the sample.
DELFI stands for “DNA evaluation of fragments for early interception.” When cells die, they release fragments of DNA into the bloodstream, called cell-free DNA or cfDNA. Investigators have found that the packaging of these fragments is different in cancer patients than in healthy individuals.
After extracting the DNA from the blood, the data are run through computer models. Artificial intelligence software can identify specific patterns of DNA fragments. The result is an accurate predictor not only of whether cancer is present but also of the source of the cancer.
Velculescu and Scharpf first published the results of the DELFI method in 2019 in Nature. That same year, they co-founded DELFI Diagnostics to make the tests commercially available and eliminate a barrier to early detection.
According to the company, lung cancer is the leading cause of cancer death in the United States. Yet of the 15.1 million Americans at elevated risk for the disease, fewer than 5 percent get recommended screening. An affordable and accessible blood test could lead to more early diagnoses and reduced death rates.
“We have a simple blood test that could be done in a doctor’s office that would tell patients whether they have potential signs of lung cancer and should get a follow-up CT scan,” Velculescu says. “The test is inexpensive and could be done on a large scale. We believe it will make lung cancer screening more accessible and help many more people get screened. This will lead to more cancers being detected and treated early.”
In 2024, Velculescu, Scharpf, and the DELFI team published another study, this one in Cancer Discovery, that validated DELFI’s FirstLook Lung test for blood-based lung cancer detection. Progressing from the proof-of-concept in Nature to a clinically validated test in just five years “is what scientists dream about,” Velculescu says.
DELFI Diagnostics Milestones:
- 2018: Velculescu and his team pivoted their research to focus on a new way of detecting cancer based on the fragmentation of DNA in the blood, leading to the DELFI test.
- 2018: Realizing the potential of the DELFI approach, Velculescu and colleagues found DELFI Diagnostics to bring the new liquid biopsy test to market.
- May 2019: Kimmel Center researchers including Velculescu and Scharpf publish the first results of the DELFI blood test – combining fragmentomics and machine learning to detect cancers – in Nature.
- August 2019: DELFI raises $5.5 million in seed financing.
- January 2021:DELFI announces it has raised $100 million in Series A funding.
- August 2021: Kimmel Center researchers, including Velculescu and Scharpf, publish initial analyses using the DELFI approach for the detection of lung cancer in Nature Communications.
- July 2022: DELFI announces it has raised $225 million in Series B funding.
- October 2023: DELFI launches FirstLook Lung, its first commercially available liquid biopsy test.
- June 2024: The results of a prospective study that validates the FirstLook Lung blood test for lung cancer detection are published in Cancer Discovery.