GEMINI : New Blood Testing Technology For Cancer
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.
- 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.
- 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.”
- 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.