51. Translating melanoma genomic risk information into prevention and early detection strategies: behavioural, psychosocial, ethical and implementation considerations
- Author
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Smit, Amelia K
- Subjects
Prevention ,Population ,Early detection ,Genomics ,Melanoma ,Risk communication - Abstract
Melanoma, the most life threatening form of skin cancer, is associated with significant morbidity and mortality. However, more than 80% of melanoma diagnoses could be prevented through reduced sun exposure and improved sun protection. Early detection through skin examination increases the likelihood of identifying melanoma at an early stage, when disease prognosis is better. But prevention and early detection behaviours are sub-optimal in Australia. Further improvements to strategies that encourage these behaviours are required. A novel approach is to personalise prevention and early detection strategies by taking into account a range of factors, including personal genomic (polygenic) risk, for individual risk assessment, and the provision of risk-specific (risk-stratified) recommendations. For melanoma, common genomic variants individually have small to moderate effect sizes for risk, and collectively have been shown to improve risk prediction models. Melanoma genomic risk variants also have a wide distribution, which would enable the stratification of risk in the wider population. There are several potential cross-cutting implications of personalising melanoma prevention and early detection strategies for the otherwise healthy population, which relate to individuals, families, ethical and implementation considerations. However, the evidence base for these implications is poor, and considerations of benefits and drawbacks are underdeveloped. This PhD thesis addresses major gaps in research by generating novel, mixed-methods (qualitative and quantitative) evidence on key implications of translating melanoma genomic risk information into personalised prevention and early detection. It includes evidence on individual impacts, communication with family, friends and health professionals, ethical and implementation considerations. These findings will inform future research and policy on personalised prevention and early detection efforts, such as risk-stratified screening.
- Published
- 2020