Dr Fernanda Amary, Consultant Histopathologist, is leading and co-ordinating the clinical pathways and implementing this for the London Sarcoma Service.

On referral to the London Sarcoma Service, you may be identified as eligible for whole genome sequencing (WGS) testing by your clinical team. Since the 100,000 Genome Project, WGS is now being offered as part of the normal diagnostic process to patients who may have a sarcoma where the scientific evidence shows it can help improve patient care. Sarcomas are rare tumours and sometimes it is difficult for a pathologist to know how a tumour is likely to behave, that is, if the tumour is benign or cancer. WGS can be very helpful for the pathologist to make a diagnosis on these difficult cases. Hence, having WGS on a tumour does not mean that it is cancer.

When WGS analysis is done on the samples we look at changes in genes related to cancer. We do this by comparing the genetic changes in the tumour and blood sample (germline DNA).  This analysis may help you and your healthcare professional understand your diagnosis and decide on the most appropriate treatment options.

Before deciding if you want to have the test, you will have an opportunity to discuss WGS with your clinical team and ask any questions you may have. If you choose to undergo WGS, you will be asked to sign a consent form and provide a blood sample. The tumour sample is taken as part of your normal treatment.

  The results of the WGS test can take a few months to come back to your clinical team. They will discuss the results with you and use them in your clinical care.