Release date: 2016-07-21

Is cancer blood genetic testing really reliable? A set of data released at the 2016 ASCO conference showed that the clinical detection sensitivity of ctDNA is about 90%, which is by far the largest liquid biopsy study.

This group of data was released at the 2016 ASCO conference. Researchers through more than 15,000 samples showed that the clinical sensitivity of cancer blood gene testing is about 90%, which is by far the largest liquid biopsy study.

The largest liquid biopsy study

Blood circulating tumor DNA (ctDNA) genomic analysis provides a non-invasive means of detecting solid tumors. To date, liquid biopsies have only been used in moderate-scale studies or case studies. In this study, the researchers used high-precision and deep ctDNA sequencing to perform somatic genome analysis on 15191 advanced patients with 50 different tumors, targeting a total of 70 genes.

Among these samples, lung cancer accounted for 37%, breast cancer accounted for 14%, colorectal cancer accounted for 10%, and other cancers accounted for 39%. The researchers collected a total of 17,628 blood samples for ctDNA gene testing and diseased tissue in 386 patients. Perform a genome analysis.

The researchers compared the frequency of detected ctDNA mutations with the data in the cancer gene map and compared the results of the corresponding tissue DNA assays to assess the accuracy of ctDNA sequencing.

Using data to speak, the clinical sensitivity of ctDNA is about 90%

This study fully confirmed the clinical utility of cancer blood gene testing. The results showed that for lung cancer, breast cancer, colorectal cancer and other cancers, the clinical sensitivity of ctDNA was 86%, 83%, 85% and 78%, respectively, and the accuracy of ctDNA sequencing was 87%.

The researchers found that the mutation rate detected by ctDNA was in agreement with the results in the cancer gene map between 92% and 99%. For example, compared with the data in the cancer gene map, the EGFR DNA has a coincidence degree of 92%; for tumor samples, the mutation rate of EGFR, BRAF, KRAS, ALK, RET, and ROS1 is 94% to 100%. between.

In addition, blood genetic testing in this study can detect mutations in low ctDNA levels, and about half of the mutations are detected at ctDNA levels of no more than 0.4%. Overall, the detection rate of ctDNA mutations in blood samples is 83%.

Solve the problem of insufficient clinical samples

ctDNA not only provides a non-invasive means of detection, but also addresses the barriers to insufficient tissue samples. The researchers said that liquid biopsy is particularly helpful for patients with lung cancer. In this study, there were 362 patients with lung cancer, but 63% of patients did not have enough diseased tissue for analysis, but could be detected by ctDNA.

However, not all patients have adequate blood ctDNA, especially in patients with glioblastoma, which the researchers believe may be due to DNA not crossing the blood-brain barrier. Therefore, researchers are working to improve the detection sensitivity of low levels of ctDNA.

"Genetic sample genetic testing is still the gold standard, but tissue samples often fail to meet qualitative and quantitative analysis, and liquid biopsy is particularly useful for assessing a patient's disease process," the researchers said.

Source: Bio-Exploration

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