Communication of genetic risk in hereditary breast and ovarian cancer and lynch syndrome: challenges and prospects for public health and clinical practice

In hereditary cancers, family communication of genetic information is essential to enable family members’ independent decision making about genetic risk assessment and counselling. In Switzerland, as in many other countries, due to privacy law, communication of genetic test results to at-risk relatives is proband-mediated and currently it is the only way genetic information can be passed on. However, uptake of genetic services among at-risk relatives is less than 50%, suggesting poor family communication and inefficacy of proband-mediated approaches in disseminating genetic information. This PhD thesis aims to explore the challenges of communication of genetic risk in hereditary breast and ovarian cancer (HBOC) and Lynch Syndrome (LS), to identify prospects for public health and clinical practice and to propose a theoretical framework aiming to improve nursing practice around dissemination of genetic information. To reach the aim, three studies have been conducted: a cross-study comparison exploring genetic literacy using data collected from three sequential studies conducted in the U.S. and Switzerland over ≥10 years; a descriptive cross-sectional study using narrative data to clarify the process of communicating genetic risk to relatives; a descriptive study presenting an empirically-based framework to guide nursing practice for enhancing access to genetic services. The thesis demonstrates gaps in the dissemination of genetic information among at-risk relatives and confirms difficulties and a high level of complexity in the process of proband-mediated communication. It emphasises the need of interventions at the clinical and public health levels and suggests concrete actions to facilitate dissemination of genetic information and access to genetic services. To guide genomic nursing care, the thesis proposes the ACCESS model which focuses on promoting access to care, providing decisional support, supporting active coping, family risk communication and cascade screening, and ensuring ongoing surveillance.