First, an overview of current worldwide initiatives concerning the use of WGS in clinical practice for cancer diagnostics is given. Second, a comprehensive, early health technology assessment (HTA) approach of evaluating WGS in the Netherlands is described, relating to the following aspects: diagnostic value, WGS-based treatment decisions, assessment of long-term health benefits and harms, early cost-effectiveness modelling, nation-wide organization, and Ethical, Legal and Societal Implications.
Personalized medicine-based treatments in advanced cancer hold the promise to offer substantial health benefits to genetic subgroups but require efficient biomarker-based patient stratification to match patients to the right treatment and may be expensive. Standard molecular diagnostics is currently very heterogeneous, and tests are often performed sequentially. The alternative to whole genome sequencing (WGS) i.e. simultaneously testing for all relevant DNA-based biomarkers thereby allowing immediate selection of the most optimal therapy, is more costly than current techniques. In the current implementation stage, it is important to explore the added value and cost-effectiveness of using WGS on a patient level and to assess optimal introduction of WGS on the level of the healthcare system.
This study provides evidence to guide further development and implementation of WGS in clinical practice and the healthcare system.