Before the cancer grows deadly, the search for cancer has taken a new step. New proof-of-concept data show that specialized blood tests can detect mutant DNA fragments that are too small to be identified by other means.
The American Society of Clinical Oncology presented this breakthrough study at the annual meeting in Chicago on Tuesday. It found that 73% of the genetic mutations found in the tumors of 124 advanced cancer patients were also found in free-floating DNA in their blood.
In addition, by sequencing the patient's immune system white blood cells, the researchers are able to filter out mutations caused by human natural aging processes - not cancerous mutations, but mutations similar to malignant tumors.
The findings came from GRAIL, a San Francisco-based DNA sequencing giant, Illumina. They validated the "high-intensity" sequencing method, which involved reading an average of 60,000 genomes of the target area to improve accuracy. GRAIL intends to use this technology to study 10,000 Americans - people with cancer and people without cancer.
“This is our feasibility study to ensure that this method is actually effective,†said Dr. Pedram Razavi, a medical oncologist at the Memorial Sloan Kettering Cancer Center in New York State, who is working with GRAIL.
Dr. Mark Lee, director of clinical development at GRAIL, said: There is a direct correlation between known cancerous tumors and DNA strands of DNA mutations in patients' blood. This is a long-term use of blood tests to determine who has cancer and who is not. An important first step in cancer.
“This gives us more confidence because we are entering larger scales of different tumor types and are larger,†Lee said.
As suggested by the company name, a blood test that can detect cancer early is developed. It is not currently detectable in X-rays and other tests in the early stages of cancer. Most of the current use is the Holy Grail cancer prevention method.
The theory is that by discovering cancer early and determining the likelihood of its slow or aggressive development, doctors will be able to use a growing range of tailored treatments to build more effective responses. The latest strategies include the field of immunotherapy, in which drugs tailored for different genetic variants can enhance the human immune system to conquer tumors or at least prevent tumor spread.
Razavi said that the two rounds of revolution in the scientific community in recent years have made it possible to pursue true early stage cancer detection.
A revolution is the rise of DNA sequencing machines, especially systems that can process large amounts of data faster.
Illumina is the world leader in this industry, and the main scientists using this technology include genetic pioneer J. Craig Venter, whose research is located across the street from the University of California, San Diego; cardiologists and custom medicine communicators California Dr. Eric Topol from Hoya cooperates with the Scripps Health Network and the Scripps Research Institute; Pediatric Genome Specialist, Dr. Stephen Kingsmore of the Children's Hospital of San Diego Reddy.
Another revolution is the explosive growth of increasingly sophisticated supercomputers and software that helps researchers understand the flow of data from DNA sequencing systems. These data analysis tools look for genetic models that point to the disease or protective benefits of hundreds, thousands, and millions of patients' genomes being studied.
GRAIL estimates that its comprehensive cancer detection process produces approximately 100-fold more data than traditional screening methods, approximately 1 terabyte of data per patient.
Razavi said: "There has been a lot of progress in sequencing technology, and there have been advances in data computing a few years ago.
Often referred to as "liquid biopsy" tests, these diagnoses take full advantage of the fact that all cells shed DNA during their life cycle. There is no difference in cells from cancer tumors.
The problem is that most of the "free" DNA that is free in human blood is not a cancerous tumor. In fact, the researchers estimate that only one in ten of these DNA fragments are from cancer cells, which means that liquid bioassays must do very well in finding the exact genetic mutations that mark cancer.
GRAIL is far from being the only company seeking a liquid biopsy cancer. In fact, several companies' products are already on the market.
Currently, doctors can order biopsies designed to detect blood-borne DNA fragments from cancerous tumors, a process that can help them determine which targeted cancer drugs to use and enable them to better monitor disease differences. stage. After the initial treatment, if the cancer recovers, the test can even let them know faster.
But so far, the extra steps to diagnose cancer based on blood tests are still on the horizon of likelihood.
Lichtenfeld said that the huge difference between GRAIL's work and the efforts of others is that the company is committed to conducting huge clinical trials to understand the significance of when cancer-associated mutant DNA fragments appear in the blood of patients.
Which fragments mean that patients develop severe cancer and which ones are not? The only way to find this answer is to analyze the blood of thousands of people with or without cancer and then compare the results.
Lichtenfeld said: "It is not enough to find cancer early. Find out which kind of cancer is a problem. Just as importantly, you can only find out the answer to this question through a lot of experiments.
GRAIL has more than $100 million in investments from Google, Bill Gates and Amazon's Jeff Bezos. The financial burden of GRAIL has reached a preliminary clinical trial of 10,000 patients – 7000 A patient diagnosed with cancer and 3,000 patients without cancer. A follow-up study of breast cancer aims to recruit 120,000 participants.
Lee, director of clinical research at GRAIL, said the first clinical trial, a clinical trial with 124 patients with advanced cancer, aims to build a knowledge base about how different cancers behave in the blood. The idea is to better understand the entire layout, if you like.
"We are trying to understand all the ways this variability and cancer can manifest, and more importantly, we want to understand the difference between people who have cancer and those who don't," Lee said.
Once the knowledge base is large enough, it can be used in large-scale breast cancer trials, and it is hoped that the cancer incidence of women undergoing routine mammography screening will be accurately predicted.
The plan looks unique, Lichtenfeld said.
He said: "I don't know that this kind of commitment has been made at this point."
But he pointed out that it is not enough to detect cancer early. Early detection must include treatments that can take advantage of those early warnings.
Lichtenfeld said: "The real wealth is changing people's lives. Otherwise, a group of people around us will be told that they have cancer, and they can't make any changes to it."
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