Whole genome sequencing

Genomic sequencing, including whole genome sequencing (WGS), is increasingly becoming a part of routine healthcare. WGS is the most comprehensive form of genetic testing currently in clinical use. It enables a wide range of variant types in a large number of genes to be tested for simultaneously.

WGS describes sequencing all of an individual’s DNA (their genome), and is most commonly thought of as being used in cases of rare disease; however it is also increasingly used in patients with cancer, where WGS of the tumour’s (somatic) genome can be undertaken. If any pathogenic variants are identified that might also be present in the patient’s constitutional (germline) DNA, this can also be investigated.

Patients have their genomes sequenced for prediction, prevention, diagnosis and treatment of disease. In addition, the genomes of tumours, and infectious agents are also being sequenced to effectively diagnose and treat them.

WGS is also widely used in a research setting, for example to identify novel genetic causes of rare disease, or to characterise mutational signatures associated with different types of cancer.

In addition to using WGS on patient samples, it is also carried out to detect and classify infectious organisms, including tuberculosis and SARS-CoV-2.