Integrating germline genetic testing into routine care of patients with breast or ovarian cancer

Abstract

It is important to identify patients with breast or ovarian cancer who carry a hereditary predisposition for cancer. Identifying such a hereditary predisposition may impact treatment and surveillance options to prevent or identify a second cancer in an early stage. In addition, family members may also be eligible for surveillance options if they carry the same hereditary predisposition. Despite these important implications, not all patients with breast or ovarian cancer who are eligible for genetic testing are referred to a genetics department for counseling and testing. Therefore, we aimed to make genetic testing more accessible to patients with breast or ovarian cancer. This thesis describes the development, implementation and evaluation of mainstream genetic testing. In these mainstream genetic testing pathways, non-genetic healthcare professionals (i.e., doctors and nurses who are already treating the patient) discuss the advantages and disadvantages of genetic testing and order genetic testing themselves for their patients after completing a concise online training. The results show that non-genetic healthcare professionals in both breast and ovarian cancer care have predominantly positive attitudes toward mainstream genetic testing and it is feasible for them to incorporate genetic testing into their routine care. Patients feel well-informed after counseling about genetic testing and mainstream genetic testing provides good quality of care. For patients with ovarian cancer, mainstream genetic testing led to higher testing rates and a reduction in genetics-related healthcare costs. Based on these results, we can conclude that mainstream genetic testing for patients with breast or ovarian cancer is acceptable and feasible for both healthcare professionals and patients to incorporate into routine care.