Blood test to detect early signs of cancer (before clinical symptoms)

from Vera Martinella

American researchers present a study on a new test that is able to identify an initial “signal” in healthy subjects, the so-called alterations in the methylation profile common to more than 50 different types of tumors

The great hope is to succeed in discover the presence of a tumor only with a blood sample. When the disease is still in its earliest stages and has not given any other symptoms. When timely and minimally invasive treatments can lead to permanent recovery, more and more people. And it is to bring this hope closer that many scientists work every day, as evidenced by the progress illustrated by a study presented at the annual congress of the European Society for Medical Oncology (ESMO) in Paris: a group of American scientists has indeed developed a blood test capable of accurately recognize over 50 types of cancer and identify in which tissue (i.e. organ) the cancer originates, before the disease gives clinical signs of its presence.

Liquid biopsy

“The development of blood tests that detect tumors before they give symptoms or are visible with the tests available today is the subject of study in hundreds of searches around the worldalso financed by Bill Gates and Jeff Bezos – he explains Antonio Russo, professor of Medical Oncology at the University of Palermo and member of the board of the Italian Association of Medical Oncology (Aiom) -. The test that uses blood as a surrogate for neoplastic tissue even before the diagnosis of cancer itself can be defined as a real example of liquid biopsy in apparently healthy patients. And liquid biopsy is a promising method which is already in use to monitor the evolution of the disease and adapt treatment, but for now it is not enough to arrive at a diagnosis ».

The new study

What does this new study consist of and what conclusions does it reach? «The results of the PATHFINDER study, which analyzed the free DNA circulating in blood samples taken from 6,621 people, all over 50 and without a cancer diagnosis – replies Russo, who is also president of the College of University Medical Oncologists (COMU) -. The test proved to be able to identify a “carcinogenic signal“(The so-called alterations of the methylation profile, common to more than 50 different types of tumors) in 1.4% of the participants and, among these with positive results, the oncological diagnosis was subsequently confirmed in about 40 % of cases. Of the 6,290 healthy people, 99.1% actually received a negative test response. The study demonstrates for the first time how through this analysis the early oncological diagnosis is feasible and safe, both from a technical and clinical point of view “. These results add to other investigations already carried out on a blood test able to analyze the methylation of free circulating DNA fragments. «The study presented at the Esmo 2022 conference in Paris by US oncologists is a new important step forward because the test being tested has shown good accuracy in detecting cancer in those who had it and a high specificity for healthy people. The false positives, which then require long and costly further investigations, have been few ”.

What is the test for today and the future

The test under study is not yet available (in Italy or elsewhere), but has been accessible within clinical trials. Several companies advertise blood tests that detect tumors in advance and the principle on which the tests are based (for some years on sale both on the Internet and offered by some diagnostic centers) is that the risk of cancer may already be written in our DNA a few years before the diagnosis and that these tests allow to find out, through a blood sample, well in advance. For now, however, this is an interesting and promising area of ​​research not yet supported by definitive scientific evidence. «It is necessary to distinguish well between reality and hope, between what can we do today and what is currently being tested, or the use of this test as a means of early diagnosis to “find” neoplasms in the early stages – concludes the expert -. There is still a long way to go, even if these results represent an important initial step in the minimally invasive early cancer diagnosis. Despite the good performance of the test, the authors of the study themselves emphasize that the importance of screening programs already validated (such as, for example, mammography for breast cancer and detection of occult blood in the faeces for colorectal), reserving the execution of the test in the early diagnosis of neoplasms without any screening option “. In short, we still need a lot of confirmations before we can have a mature tool that can be administered as a universal screening on the general population, in other words “on the carpet” on all healthy people.

September 11, 2022 (change September 11, 2022 | 17:03)

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Blood test to detect early signs of cancer (before clinical symptoms)


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