Whole Genome Sequencing from EUS biopsies

Cancer can be described as a genetic disease – we can say this because cancer generally arises when a person’s genome becomes corrupted and the cells in their body stop behaving precisely as they should.   Scientists and clinicians are working together to develop treatment strategies based on the genetic makeup of each patient’s individual cancer.

Recently, our understanding of the genetic and molecular events that lead to pancreatic cancer has increased dramatically.  However, a major obstacle preventing us from unravelling the pancreatic cancer genome, has been our inability to obtain enough of the cancer tissue needed for the tests.

In the main, scientists and clinicians rely on surgically removed pancreatic tissue for genetic tests. However, since the pancreas is positioned amongst other major organs in the body, it needs major invasive surgery to access it and the reality is that only a minority of patients (< 20%) are able to undergo surgery for pancreatic cancer at the time of diagnosis.  This means that it is almost impossible to easily obtain tissue for testing. Therefore, new techniques to obtain good quality genetic data from patients are urgently sought to improve our treatment of the disease.

Scientists and surgeons within our organisation have used a procedure called endoscopic ultrasound (EUS) – a standard diagnostic procedure used in most clinical pancreatic units – to obtain biopsies specifically for genetic testing.  Using tissue obtained from such EUS biopsies, our team developed a technique to successfully generate whole genome sequencing (WGS) data which they then analysed to identify the possible changes in the genome responsible for the development of cancer in that patient.

Our team has confirmed that it is possible to perform WGS from these small biopsies, and is likely to be successful in most patients with pancreatic cancer. This could potentially allow patients to have sophisticated genetic tests carried out on their cancer, which could help select the most appropriate experimental treatment in the form of clinical trials. This will further allow scientists greater insight into the processes that cause this disease and how it develops over time,especially once patients receive chemotherapy.