Whole Genome Sequencing (WGS)
WGS approaches can be used to comprehensively explore all types of genomic alterations in cancer and help us to better understand the whole landscape of driver mutations and mutational signatures in cancer genomes and elucidate the functional or clinical implications of these unexplored genomic regions and mutational signatures. This approach combined with mathematical analysis and other omics analysis can clarify the underlying carcinogenesis and achieve molecular sub‐classification of cancer, which facilitates discovery of genomic biomarkers and personalized cancer medicine.
DNA is randomly fragmented by physical shearing, and 30‐50× sequence depth (90‐150 Gb) of each human whole genome is usually sequenced for both cancer and normal genomes, which can cover 99% of the entire human genome.
About 5 to 10 percent of all cancers are caused by known inherited gene mutations. These mutations are passed down from generation to generation. Through WGS, patients are able to assess their risk for many types of cancer, including kidney, skin, lung, breast, ovarian, colon, endocrine, prostate cancers and etc. If a known genetic predisposition to cancer is found, a physician or genetic counselor is able to counsel the patient about the best ways to detect early cancers or, better yet, prevent cancers from ever forming.
Who can benefit from WGS?
Paediatric patients with a possible genetic disorder and symptoms that don’t fit into an established syndrome.
Any patient with a possible genetic disorder in whom a diagnosis has not been made using traditional tests.
Cancer patients: genetic testing for personalized treatment options/ prognosis and testing for hereditary cancer.
Healthy individuals: health risk information, inherited traits, carrier status, ancestry.