The Daffodil Centre, The University of Sydney, a joint venture with Cancer Council NSW, NSW, Sydney, Australia.
Melanoma Institute Australia, The University of Sydney, Sydney, NSW, Australia.
Genet Med. 2021 Dec;23(12):2394-2403. doi: 10.1038/s41436-021-01292-w. Epub 2021 Aug 12.
We evaluated the impact of personal melanoma genomic risk information on sun-related behaviors and psychological outcomes.
In 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.
At 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.
Personalized 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.
我们评估了个人黑色素瘤基因组风险信息对与阳光相关行为和心理结果的影响。
在这项平行组、开放、随机对照试验中,通过医疗保险数据库(3%的同意率)招募了 1025 名无黑色素瘤且年龄在 18-69 岁之间的欧洲裔澳大利亚人。参与者被随机分配到干预组(n=513;唾液样本进行基因检测,基于 40 个变异多基因风险评分的个性化黑色素瘤风险手册,基于电话的基因咨询,教育手册)或对照组(n=512;教育手册)。在基线、干预后 1 个月和基线后 12 个月,佩戴腕部紫外线(UV)辐射剂量计(佩戴 10 天)并进行问卷调查。
在 12 个月时,948(92%)名参与者完成了剂量测定,973(95%)名参与者完成了问卷调查。对于主要结局,无论传统风险因素如何,基因组风险干预对 12 个月时的客观测量 UV 暴露均没有影响。对于 12 个月时的次要结局,干预减少了晒伤(风险比:0.72,95%置信区间:0.54-0.96),并增加了女性的皮肤检查。黑色素瘤相关担忧减少。总体上对一般心理困扰没有影响。
个性化基因组风险信息并未影响阳光暴露模式,但确实改善了一些皮肤癌预防和早期检测行为,表明它可能对精准预防有用。没有证据表明存在心理伤害。