Blood Test Detects Multiple Cancer Types With High Degree of Accuracy

By Megan Brooks

October 02, 2019

NEW YORK (Reuters Health) - A blood test in development can screen for more than 20 types of cancer with a high degree of accuracy, according to new research.

The test, developed by GRAIL, Inc., uses next-generation sequencing technology to detect DNA methylation patterns associated with cancer in cell-free DNA.

"Our previous work indicated that methylation-based assays outperform traditional DNA-sequencing approaches to detecting multiple forms of cancer in blood samples. The results of the new study demonstrate that such assays are a feasible way of screening people for cancer," the study's lead author, Dr. Geoffrey Oxnard from Dana-Farber Cancer Institute in Boston, said in a news release.

He presented the findings on September 28 at the European Society for Medical Oncology (ESMO) meeting in Barcelona, Spain.

Dr. Oxnard and colleagues analyzed cell-free DNA in 3,583 blood samples, including 1,530 from people with cancer and 2,053 from people without cancer. The patient samples comprised more than 20 types of cancer, including hormone-receptor-negative breast cancer and colorectal, esophageal, gallbladder, gastric, head and neck, lung, lymphoid leukemia, multiple myeloma, ovarian and pancreatic cancer.

These types of cancers account for roughly 63% of all U.S. cancer deaths, Dr. Oxnard noted in his presentation.

The overall specificity of the test was 99.4%, with only 0.6% of the results incorrectly indicating that cancer was present.

The sensitivity of the test was less impressive, at 54.7% overall and 75.8% in pre-specified cancer types. Within the latter group, the sensitivity was 32% for patients with stage I cancer; 76% for those with stage II; 85% for stage III; and 93% for stage IV.

For the 97% of samples with a known tissue of origin result, the test correctly identified the organ or tissue of origin in 89% of cases.

"Together, these findings support the further clinical development of the targeted methylation approach as a multi-cancer detection test for numerous clinically significant cancer types," Dr. Oxnard told the conference. He said results from an independent validation set will be presented at a future meeting.

In an email to Reuters Health, Dr. Oxnard noted that this "multi-cancer detection test has been designed with a high specificity for use on population scale. Intuitively, such a test could also be useful for individuals at risk of cancer. For example, GRAIL's SUMMIT study is now enrolling men and women age 50-77 to evaluate the test's ability to detect undiagnosed cancer. Of the 50,000 participants being enrolled, half will be at high risk of cancer due to a significant smoking history."

The study was funded by GRAIL, Inc. Dr. Oxnard has received consulting fees and institutional clinical trial support from the company.


ESMO 2019.