Examination of DNA in blood to more easily diagnose cancer and pregnancy complications

To learn more about a person’s health, doctors often need to take tissue samples. Professor Joris Vermeesch’s team developed a diagnostic analysis that can show which tissues in our body are affected, based on the cell-free DNA in our blood. This allows various cancers and pregnancy complications to be diagnosed with great sensitivity. The results were published in Nature Communications.

In addition to the DNA that is folded in our cell nucleus, there is also the so-called cell-free DNA that circulates throughout the body in our blood. These small DNA fragments also carry important information about our health. Recent research, led by geneticist Professor Joris Vermeesch from KU Leuven, shows that the distribution of cell-free DNA in the blood contains a lot of health information that doctors can use to diagnose patients early.

Analysis of cell-free DNA pattern

Conditions such as cancer, pregnancy complications or even autoimmune diseases affect various tissues in our body. This changes the composition of cell-free DNA in our blood. “By looking at which cells or tissues supply more or less cell-free DNA, we gain more insight into a person’s health,” says Professor Vermeesch. An example is the NIPT _{(non-invasive prenatal test)} where doctors check the number of chromosomes in the fetus to detect, among other things, Down syndrome. Thanks to the new technology, which looks not only at the chromosomes but at the entire DNA pattern, it can be determined from the same blood sample whether other pregnancy complications such as preeclampsia or viral infections are present. “The major advantage of this diagnostic method is that only a blood sample is required and patients therefore do not have to undergo invasive sampling.”

Universally applicable

Breast and colon cancer can also be detected in the same way at a very early stage. “We never thought we could get so much information from the small cell-free DNA fragments,” says Vermeesch. “We also want to test the technique on various other cancers and diseases that affect tissues.”