Results from a study of a multicancer blood test in more than 9,900 women with no evidence or history of cancer showed that it detected undiagnosed cancers. The liquid biopsy test works by detecting the presence of cancer gene mutations in circulating DNA and blood levels of specific cancer proteins.

Researchers at the Ludwig Center at the Johns Hopkins Kimmel Cancer Center, who developed the blood test, say the study, called DETECT-A (Detecting cancers Earlier Through Elective mutation-based blood Collection and Testing), represents the first time any liquid biopsy blood test was used clinically to screen for cancer in a population without previously detected cancer for the purpose of diagnosis and intervention—specifically treatment with the intent to cure cancer.

Overall, 26 cancers were detected by the blood test while an additional 24 cancers were detected by standard screening such as mammography or colonoscopy. Together, screen-detected cancers (those detected by either blood testing or standard screening), accounted for more than half of the 96 cancers detected during the study period.

"This study suggests that a multicancer blood test can be complementary and additive to standard of care screening and may be a good strategy for increasing early detection of cancer," says Anne Marie Lennon, lead author of the report published in Science yesterday.

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"The DETECT-A study incorporated PET-CT imaging to provide independent confirmation of the existence of a cancer and to precisely localize its site," says Nickolas Papadopoulos, Ph.D., senior author. "For example, we could detect a lung cancer, tell in which lobe of which lung the cancer was located, the size of the cancer and if there were metastatic lesions present. Blood tests alone are not able to provide this type of precise information."

In the DETECT-A study, the blood test followed by PET-CT imaging was 99.6% specific for cancer. The researchers also confirmed that the genetic mutations picked up by the blood test that led to a positive test were present in the cancer 100% of the time.