GEMINI Diagnostics 

What is in the News?

• 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 Does it Work?

• 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.

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