AI-Powered Blood Test Shows Promise for Early Ovarian Cancer Detection

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A new study reveals that an AI-driven blood test combining cell-free DNA analysis and protein biomarkers could significantly improve early detection of ovarian cancer, potentially saving lives through earlier diagnosis and treatment.

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Breakthrough in Ovarian Cancer Screening

Researchers at the Johns Hopkins Kimmel Cancer Center, in collaboration with institutions across the United States and Europe, have developed a promising new blood test for early ovarian cancer detection. The study, published in Cancer Discovery on September 30, 2024, combines artificial intelligence (AI) analysis of DNA fragments with two protein biomarkers to identify women with ovarian cancer

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The DELFI-Pro Test

The new test, called DELFI-Pro (DNA Evaluation of Fragments for early Interception), utilizes an AI-powered approach known as fragmentomics. This technology detects irregular patterns in cell-free DNA fragments circulating in the blood, which are characteristic of cancer cells

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DELFI-Pro combines this DNA analysis with tests for two protein biomarkers:

  1. Cancer antigen 125 (CA-125)
  2. Human epididymis protein 4 (HE4)

While these protein markers were previously known, they were not reliable enough on their own. The combination with AI-driven DNA fragment analysis significantly improved screening accuracy

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Study Results

The researchers tested DELFI-Pro on blood samples from:

  • 94 women with ovarian cancer
  • 203 women with benign ovarian tumors
  • 182 women without ovarian growths

The test showed impressive results:

  • Detected 72%, 69%, 87%, and 100% of ovarian cancer cases for stages I-IV, respectively
  • Significantly outperformed CA-125 alone, which detected 34%, 62%, 63%, and 100% for the same stages
  • Achieved high accuracy with almost no false positives

A validation study on a smaller American sample yielded similar results, detecting 73% of all cancers and 81% of high-grade serous ovarian carcinoma cases

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Implications for Ovarian Cancer Screening

Ovarian cancer is the fifth most common cause of cancer deaths among women in the United States, with a five-year survival rate of approximately 50%. Early detection is crucial, as most women are diagnosed late when survival rates are much lower.

The DELFI-Pro test offers several advantages:

  1. Potential for early detection, even in asymptomatic patients
  2. Ability to distinguish between benign and cancerous growths
  3. Possibility of reducing unnecessary exploratory surgeries

Future Directions

While the results are promising, the researchers plan to validate the test's utility in larger samples from randomized clinical trials. Dr. Victor E. Velculescu, senior author of the study, believes this AI-enabled approach has the potential to become an affordable and accessible method for widespread ovarian cancer screening

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As research progresses, this innovative "liquid biopsy" technique could revolutionize ovarian cancer screening, potentially saving lives through earlier diagnosis and treatment.

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