Population-based genetic screening for tumour predisposition

Abstract

Although efficient preventive strategies are available for several tumour predisposition syndromes (TPS), the majority of carriers is currently not identified. Several pilot studies in Western countries demonstrated that population-based genetic screening (PGS) for selected TPS can be feasible, effective, and even cost-efficient. Nonetheless, some substantial barriers have yet to be solved which include changes in the concept of genetic testing, investments in preventive capacities, improved automated variant classification, and reimbursement options. In particular, individualised risk assessment for carriers based on additional risk factors and improved penetrance estimates for variants identified by PGS are crucial to avoid overtreatment. In this article, we discuss opportunities, limitations, and feasibilities of PGS for TPS in general and provide finally a special focus on the German health care system.