Abstract
BACKGROUND: About 30% of all women with breast or ovarian cancer exhibit a family history of the disease. So far, the genetic cause could be deciphered in about 30% of these cases. The results demonstrate a high genetic heterogeneity, with high-risk and moderate-risk genes and low-risk variants contributing alone or in concert to the development of cancer. Furthermore, it has been shown that the genotype significantly determines the phenotype and that knowledge of the phenotype is as important as the genotype to offer adequate and risk-adapted prevention to persons at risk. For newly identified risk genes, however, the phenotype is not sufficiently characterized at first, and thus prevention measures are not sufficiently evaluated. SUMMARY: The German Consortium for Hereditary Breast and Ovarian Cancer has developed a concept for collecting the missing data in the context of knowledge-generating care and at the same time ensuring care based on the best available knowledge. Core elements of this concept are: structured and standardized care, an outcome-oriented evaluation based on a comprehensive registry, networking with certified breast and gynecological cancer centers combined with regular training on state-of-the-art care for doctors, and compilation of comprehensible patient information. This comprehensive concept has been incorporated into contracts for specialized care with health insurers and thus ensures nationwide care at the highest scientific and clinical levels. KEY MESSAGES: This article describes how to implement a concept of evidence-generating care for risk-adjusted prevention in a nationwide health care system.