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New blood testing technology called GEMINI

 

 Context: Researchers have developed a new blood testing technology called GEMINI (Genome-wide Mutational Incidence for Non-Invasive Detection of Cancer) that uses genome-wide sequencing of single molecules of DNA combined with machine learning.

  • This technology has the potential to enable earlier detection of lung and other cancers.

 

How it works?

The GEMINI test starts by collecting a blood sample from individuals at risk of cancer. From this sample, cell-free DNA (cfDNA) shed by tumours is sequenced using cost-efficient whole genome sequencing. Single molecules of DNA are analyzed for sequence alterations, providing mutation profiles across the genome.

A machine learning model then identifies changes in cancer and non-cancer mutation frequencies, generating a score indicating the likelihood of having cancer.

 In laboratory tests, the GEMINI test, when combined with computerized tomography imaging, detected over 90% of lung cancers, including early-stage diseases. The test also identified altered mutation profiles in cfDNA from patients with other cancers, such as liver cancer, melanoma, and lymphoma, suggesting broader applications.

cfDNA stands for “cell-free DNA.” It refers to small fragments of DNA that are released into the bloodstream or other bodily fluids when cells in the body die and break down. These fragments of DNA are not enclosed within cells, hence the term “cell-free.”