New AI-based blood test technology detects over 80% of liver cancers

New AI-based blood test technology detects over 80% of liver cancers

A new artificial intelligence blood test technology developed and used by Johns Hopkins Kimmel Cancer Center researchers to successfully detect lung cancer in a 2021 study has now detected more than 80% of liver cancers in a new study involving 724 people.

The blood test, called DELFI (DNA evaluation of fragments for early interception) detects fragmentation changes among the DNA of cancer cells released into the bloodstream, known as cell-free DNA (cfDNA). In the most recent study, researchers used DELFI technology on blood plasma samples collected from 724 people in the United States, European Union (EU), and Hong Kong to detect hepatocellular cancer (HCC) , a type of liver cancer.

The researchers believe this is the first independently validated genome-wide fragmentation analysis in two high-risk populations and in different racial and ethnic groups with different causes associated with their liver cancers.

Their findings were reported on November 18 in Discovery of cancer and at the American Association for Cancer Research Special Conference: Precision Prevention, Early Detection and Interception of Cancer.

According to a global analysis of the burden of liver disease (J. Hepatology2019).

“Increased early detection of liver cancer could save lives, but currently available screening tests are underutilized and miss many cancers,” says Victor Velculescu, MD, Ph.D., professor of oncology and co-director of the cancer genetics and epigenetics program at Johns Hopkins Kimmel Cancer Center, who co-directed the study with Zachariah Foda, MD, Ph.D., Gastroenterology Fellow, Akshaya Annapragada, MD/Ph.D. student, and Amy Kim, MD, assistant professor of medicine at the University Johns Hopkins University School of Medicine.

Of the 724 plasma samples studied, 501 were collected in the US and EU and included samples from 75 people with HCC to train and validate the machine learning model, a type of artificial intelligence that uses data and algorithms to improve accuracy, says Foda. For validation, 223 additional plasma samples were analyzed from people in Hong Kong and included samples from 90 people with HCC, 66 with hepatitis B virus (HBV), 35 with HBV-related liver cirrhosis and 32 people with no underlying risk factors.

DELFI technology uses a blood test to measure how DNA is packaged inside a cell’s nucleus by studying the size and amount of cell-free DNA present in circulation from different regions of the genome. Healthy cells pack DNA like a well-organized suitcase, in which different regions of the genome are neatly placed in different compartments. Cancer cell nuclei, on the other hand, look like more disorganized suitcases, with pieces from across the genome thrown in at random. When cancer cells die, they release DNA fragments chaotically into the bloodstream.

DELFI identifies the presence of cancer by examining millions of cfDNA fragments for abnormal patterns, including the size and amount of DNA in different genomic regions. The DELFI approach requires only low-coverage sequencing, making this technology cost-effective in a screening setting, the researchers say.

In the latest study, the researchers performed the test – which had previously been shown to accurately classify lung cancer – on cDNA fragments isolated from plasma samples. They analyzed the fragmentation patterns of each sample to develop a DELFI score.

Scores were low for cancer-free people with viral hepatitis or cirrhosis (median DELFI score was 0.078 and 0.080, respectively), but, on average, 5-10 times higher for the 75 HCC patients in the samples US/EU, with high scores observed at all stages of cancer, including early stage disease (DELFI scores for stage 0 = 0.46, stage A = 0.61, stage B = 0, 83 and stage C = 0.92). Additionally, the assay detected fragmentation changes in the content and packaging of liver cancer genomes, including regions of the genome associated with liver-specific activity.

DELFI technology has detected liver cancers at their earliest stages, with an overall sensitivity – or ability to accurately detect cancer – of 88% and specificity of 98%, meaning it has no almost never mistakenly provided a false positive result, in average people. risk. In samples taken from people at high risk of HCC, the test had a sensitivity of 85% and a specificity of 80%.

Currently, less than 20% of the high-risk population gets screened for liver cancer due to suboptimal testing accessibility and performance. This new blood test can double the number of liver cancer cases detected, compared to the standard blood test available, and increase the early detection of cancer.”

Amy Kim, MD, assistant professor of medicine at Johns Hopkins University School of Medicinestudy co-lead author

The researchers say next steps include validating this approach in larger studies for clinical use.

More than 800,000 people are diagnosed with liver cancer worldwide each year, and it is one of the leading causes of cancer death worldwide, according to the American Cancer Society.

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