Applying this technology to blood samples taken from 796 individuals in Denmark, the Netherlands and the U.S., investigators found that the DELFI approach accurately distinguished between patients with and without lung cancer.
‘The DELFI technology blood test for lung cancer can be a good way to enhance screening efforts.’
Combining the test with analysis of clinical risk factors, a protein biomarker, and followed by computed tomography imaging, DELFI helped to detect 94% of patients with cancer across stages and subtypes.
This included 91% of patients with earlier or less invasive stage I/II cancers and 96% of patients with more advanced stage III/IV cancers. These results are published in the journal Nature Communications.
Lung cancer is the most common cause of cancer death, claiming almost 2 million lives worldwide each year. However, fewer than 6% of Americans at risk for lung cancers undergo recommended low-dose computed tomography screening, despite these projections can avoid death.
The potential harm from the investigation of false positive imaging results, radiation exposure or worries about complications from invasive procedures can delay the screening procedure.
“It is clear that there is an urgent, unmet clinical need for development of alternative, non-invasive approaches to improve cancer screening for high-risk individuals and, ultimately, the general population,” says lead author Dimitrios Mathios, a postdoctoral fellow at the Johns Hopkins Kimmel Cancer Center.
The DELFI technology uses a blood test to indirectly measure the way DNA is packaged inside the nucleus of a cell by studying the size and amount of cell-free DNA present in the circulation from different regions across the genome.
DELFI helps identify the presence of cancer using machine learning, a type of artificial intelligence, to examine millions of cell-free DNA fragments for abnormal patterns, including the size and amount of DNA in different genomic regions.
This approach provides a view of cell-free DNA referred to as the “fragmentome.” The DELFI approach only requires low-coverage sequencing of the genome, enabling this technology to be cost-effective in a screening setting.
A first-of-a-kind national clinical trial called DELFI-L101, sponsored by the Johns Hopkins University spin-out DELFI Diagnostics, evaluates a test based on the DELFI technology in 1,700 participants in the U.S., including healthy participants, individuals with lung cancers and individuals with other cancers. The group would like to further study DELFI in other types of cancers.