Abstract
PurposeWe evaluated the impact of personal melanoma genomic risk information on sun-related behaviors and psychological outcomes.MethodsIn this parallel group, open, randomized controlled trial, 1,025 Australians of European ancestry without melanoma and aged 18–69 years were recruited via the Medicare database (3% consent). Participants were randomized to the intervention (n = 513; saliva sample for genetic testing, personalized melanoma risk booklet based on a 40-variant polygenic risk score, telephone-based genetic counseling, educational booklet) or control (n = 512; educational booklet). Wrist-worn ultraviolet (UV) radiation dosimeters (10-day wear) and questionnaires were administered at baseline, 1 month postintervention, and 12 months postbaseline.ResultsAt 12 months, 948 (92%) participants completed dosimetry and 973 (95%) the questionnaire. For the primary outcome, there was no effect of the genomic risk intervention on objectively measured UV exposure at 12 months, irrespective of traditional risk factors. For secondary outcomes at 12 months, the intervention reduced sunburns (risk ratio: 0.72, 95% confidence interval: 0.54–0.96), and increased skin examinations among women. Melanoma-related worry was reduced. There was no overall impact on general psychological distress.ConclusionPersonalized genomic risk information did not influence sun exposure patterns but did improve some skin cancer prevention and early detection behaviors, suggesting it may be useful for precision prevention. There was no evidence of psychological harm.
Highlights
Primary and secondary prevention are crucial for skin cancer control
Most melanomas and other skin cancers are caused by ultraviolet radiation (UV) and are largely preventable through sun protection behaviors [1, 2], and early detection is associated with improved prognosis [3, 4]
The US Preventive Services Task Force has called for research targeting high-risk groups for skin cancer screening, surveillance, and behavioral counseling [5, 6]
Summary
Most melanomas and other skin cancers are caused by ultraviolet radiation (UV) and are largely preventable through sun protection behaviors [1, 2], and early detection is associated with improved prognosis [3, 4]. The US Preventive Services Task Force has called for research targeting high-risk groups for skin cancer screening, surveillance, and behavioral counseling [5, 6]. Common genomic variants each have small to moderate effect sizes for melanoma risk, and when aggregated in a polygenic risk score they have been shown to be as good as, or better than, other more traditional measures of melanoma risk such as skin type or family history [7]. Genomic risk may be easier to measure and can identify individuals at high risk despite an absence of traditional, often visible, risk factors [7]
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