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Cancer blood test using DNA snippets offers hope for early detection, say researchers

Researchers have developed a new machine-learning model to detect cancers that are in the early stages of the disease by examining fragments of DNA from cancer cells in the blood.

A research team at the University of Wisconsin-Madison was able to detect cancer in the bloodstream in most of the samples tested, he said.

Muhammed Murtaza, professor of surgery at the UW School of Medicine and Public Health based in Madison, Wisconsin, led the study, which was recently published in Science Translational Medicine, a medical journal of the American Association for the Advancement of Science, according to the study press release.

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“We are incredibly excited to find that early detection and monitoring of multiple types of cancer is potentially feasible using such a cost-effective approach,” Murtaza said in the press release.

Early detection of many types of cancer will lead to better outcomes for patients, the statement noted.

“We are incredibly excited to find that early detection and monitoring of multiple cancers is potentially feasible using such a cost-effective approach,” says the lead author of a new study.
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While other scientists are also developing blood tests to detect cancer earlier, current technology has limitations such as cost and the “sensitivity” of the test.

Sensitivity, in this case, refers to the test’s ability to correctly detect the presence of cancer, according to the Centers for Disease Control and Prevention (CDC).

How is the test done?

When cells die as part of the body’s natural cell renewal process, fragments of DNA are released outside the cells. These begin to circulate in the bloodstream – that is, the plasma, which is the liquid portion of the blood, according to the researchers.

“It should be focused on patients with significant family histories or personal risk factors, or who have genetic syndromes associated with the development of various types of cancer.”

The research team hypothesized that cancer cells have different DNA fragments than healthy cells, specifically where the DNA strands “break”. Nucleotides, which are the “building blocks of DNA”, surround these breakpoints.

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The research team used a special technique that the study called Genome-wide AnaLYsis of FRagment Ends – or GALYFRE – to analyze the “cell-free” DNA of 521 samples.

For a new study, a research team at the University of Wisconsin-Madison also

For a new study, a research team at the University of Wisconsin-Madison also “sequenced” data from 2,147 additional samples from two groups of people: healthy individuals – and patients with 11 different types of cancer.
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The team also “sequenced” data from 2,147 additional samples from two groups of people: healthy individuals and patients with 11 different types of cancer.

“DNA sequencing means determining the order of the four chemical building blocks — called “bases” — that make up the DNA molecule,” according to the National Institutes of Health’s website on Human Genome Research.

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“The sequence tells scientists the type of genetic information that is carried in a given segment of DNA.”

The research team then used these analyzes to develop a metric that could reflect the proportion of cancer-derived DNA molecules in each sample.

machine learning model

They combined this measurement with genetic information found in DNA fragments to develop a model that trains a machine to compare DNA fragments from healthy cells with DNA fragments from different types of cancer cells.

“The sequence tells scientists the type of genetic information that is carried in a given segment of DNA.”

This model differentiated people with cancer at any stage of their diagnosis from people without cancer 91% of the time.

It also “accurately identified samples from patients with stage 1 cancer in 87% of cases, suggesting it holds promise for detecting cancer at early stages,” according to the release.

The research team hopes to conduct further clinical studies to validate the blood test for specific cancers, such as pancreatic cancer and breast cancer.

The research team hopes to conduct further clinical studies to validate the blood test for specific cancers, such as pancreatic cancer and breast cancer.
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The study, while promising, notes that more research is needed to apply the use of GALYFRE in patients of different age groups and those with various medical conditions.

Refinement needed for the future

The research team hopes to conduct further clinical studies to validate the blood test for specific cancers, such as pancreatic cancer and breast cancer.

“One direction we are taking is to refine GALYFRE to make it even more accurate for some patients who are at risk of developing specific types of cancer,” Murtaza noted in the statement.

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His team is also looking to see if this technology can be used not only for early cancer detection, but also to monitor how chemotherapy patients respond to cancer treatments.

The researchers hope that “this work will lead to a blood test for cancer detection and monitoring that will be clinically available in the next 2 to 5 years for at least some conditions.”

“I think using cell-free DNA and a liquid biopsy will be most helpful for patients with a known cancer diagnosis and [for] post-treatment to monitor disease recurrence – avoiding the need for [high-risk] biopsy,” Dr. Oren N. Gottfried, a professor at Duke University School of Medicine in Durham, North Carolina, told Fox News Digital.

“This is particularly true with brain cancer, where every brain biopsy carries considerable risk,” added Gottfried, who is also a neurosurgeon.

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“In general, as a screening tool, I think it should be focused on patients with significant family histories or personal risk factors, or who have genetic syndromes associated with the development of various types of cancer.”

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Murtaza of the UW School of Medicine and Public Health hopes that with further research and development, “this work will lead to a blood test for cancer detection and monitoring that will be clinically available within the next 2 to 5 years to at least some conditions – and ultimately be affordable for patients with limited healthcare resources in the US and around the world,” he said in the press release.

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