In standard diagnostics, often only a small part of the tumor DNA is examined, and usually multiple tests are required. With whole genome sequencing (WGS), tumor tissue is collected from the patient, and the entire tumor DNA is mapped. With this approach, all possible information on sequence, copy number and structural alterations in the tumor DNA is made available in one go. This saves the patient from burdensome extra biopsy procedures, successive analyses and an accumulation of tests. Several studies have already shown that whole genome sequencing has added value for the diagnosis. More leads are found for personalized treatment, and patients for whom no regular treatment options remain, may be eligible for specific clinical trials.
Nevertheless, the use of whole genome sequencing (WGS) is not yet part of standard diagnostics in the Netherlands. One reason is that its feasibility in standard care for cancer patients has not yet been investigated. Nor has an extensive comparison been made between WGS and standard molecular diagnostic techniques.
In addition to the feasibility of WGS in routine diagnostics pathology, the researchers involved are investigating whether WGS allows additional biomarkers to be found that may have added value for the treatment of the patient. Biomarkers have a predictive value for determining whether or not a patient responds to a particular drug. The study also takes into account whether WGS allows the oncologist to make better decisions for a treatment plan. UMC Utrecht is researching the cost-effectiveness of using WGS. To this end, whole genome sequencing will be conducted in the tumors of 1200 patients.
Professor Gerrit Meijer, pathologist at the Netherlands Cancer Institute is leading the study: "In pathology we want to extract as much information from tissue samples as possible that is relevant to the patient", he says. Applying whole genome sequencing (WGS) means a major leap forward in tumor diagnostics. This project will help to pave the way for a solid nationwide implementation of this important technical innovation, leading to the best diagnosis for the best treatment."
"This project should contribute to the availability of WGS in reimbursed care for all patients with metastatic cancer in the Netherlands. We have known for a long time that every tumor has an almost unique profile and therefore offers possibilities for treatment that matches the unique DNA characteristics of that tumor. In this way, more and more patients with metastatic cancer will be eligible for personalized treatment," says Paul Roepman, a clinical molecular biologist in pathology (Hartwig Medical Foundation/KMBP), who sees an increasing demand from oncologists for whole genome sequencing (WGS).
The genetic and clinical data generated in this project will be added to an existing large DNA database of patients with metastatic cancer. With this well-filled database, even better cancer research can be done, and the expectations are that distinguishing subgroups of cancer patients who do or do not respond to specific drug therapies can be performed much faster in the future.
The project is called WIDE. WIDE stands for WGS Implementation in the standard Diagnostics for Every cancer patient, and is executed at the Netherlands Cancer Institute. All patients with (suspected) metastases who undergo a biopsy procedure for a pathological examination in routine diagnostics are eligible. This concerns patients with a metastatic solid tumor (no hematological cancers). The sequencing of the tumor DNA will be performed at Hartwig Medical Foundation in Amsterdam. This foundation has a specific focus on extensive tumor DNA testing using WGS and already has an established collaboration with the Netherlands Cancer Institute.