Impact of personal genomic risk information on melanoma prevention behaviors and psychological outcomes: a randomized controlled trial,Genetics in Medicine

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Impact of personal genomic risk information on melanoma prevention behaviors and psychological outcomes: a randomized controlled trial
Genetics in Medicine ( IF 6.6 ) Pub Date : 2021-08-12 , DOI: 10.1038/s41436-021-01292-w
Amelia K Smit _{1,

2} , Martin Allen ₃ , Brooke Beswick ₁ , Phyllis Butow ₄ , Hugh Dawkins _{5,

6} , Suzanne J Dobbinson ₇ , Kate L Dunlop ₁ , David Espinoza ₈ , Georgina Fenton ₁ , Peter A Kanetsky ₉ , Louise Keogh ₁₀ , Michael G Kimlin ₁₁ , Judy Kirk ₁₂ , Matthew H Law _{13,

14} , Serigne Lo ₂ , Cynthia Low ₁₅ , Graham J Mann _{2,

16} , Gillian Reyes-Marcelino ₁ , Rachael L Morton _{2,

8} , Ainsley J Newson ₁₇ , Jacqueline Savard ₁₈ , Lyndal Trevena ₁₉ , Sarah Wordsworth ₂₀ , Anne E Cust _{1,

2}

Affiliation

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.
Electrical and Computer Engineering, University of Canterbury, Christchurch, New Zealand.
Centre for Medical Psychology and Evidence-based Decision-making, School of Psychology, The University of Sydney, Sydney, NSW, Australia.
Division of Genetics, School of Biomedical Sciences, University of Western Australia, Crawley, WA, Australia.
School of Medicine, The University of Notre Dame, Notre Dame, NSW, Australia.
Cancer Council Victoria, Melbourne, VIC, Australia.
NHMRC Clinical Trials Centre, The University of Sydney, Sydney, NSW, Australia.
H. Lee Moffitt Cancer Center and Research Institute, Tampa, FL, USA.
Melbourne School of Population and Global Health, The University of Melbourne, Parkville, VIC, Australia.
Queensland University of Technology, School of Biomedical Sciences, Brisbane, QLD, Australia.
Westmead Clinical School and Westmead Institute for Medical Research, Sydney Medical School, The University of Sydney, Sydney, NSW, Australia.
Statistical Genetics, QIMR Berghofer Medical Research Institute, Brisbane, QLD, Australia.
Queensland University of Technology (QUT), Brisbane, QLD, Australia.
Consumer representative, Brisbane, QLD, Australia.
The John Curtin School of Medical Research, ANU College of Health and Medicine, ANU, ACT, Canberra, Australia.
Sydney Health Ethics, Sydney School of Public Health, The University of Sydney, Sydney, NSW, Australia.
School of Medicine, Faculty of Health, Deakin University, Geelong, VIC, Australia.
Sydney School of Public Health, The University of Sydney, Sydney, NSW, Australia.
Health Economics Research Centre, The University of Oxford, Oxford, UK.

Purpose

We evaluated the impact of personal melanoma genomic risk information on sun-related behaviors and psychological outcomes.

Methods

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.

Results

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.

Conclusion

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.

中文翻译：

个人基因组风险信息对黑色素瘤预防行为和心理结果的影响：一项随机对照试验

目的

我们评估了个人黑色素瘤基因组风险信息对太阳相关行为和心理结果的影响。

方法

在这个平行组中，开放的随机对照试验通过 Medicare 数据库招募了 1,025 名没有黑色素瘤且年龄在 18-69 岁的欧洲血统的澳大利亚人（3% 的同意）。参与者被随机分配到干预组（n = 513；用于基因检测的唾液样本、基于 40 种多基因风险评分的个性化黑色素瘤风险手册、基于电话的遗传咨询、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 个月进行腕戴式紫外线 (UV) 辐射剂量计（佩戴 10 天）和问卷调查。

结果

在 12 个月时，948 名 (92%) 参与者完成了剂量测定，973 名 (95%) 完成了问卷调查。对于主要结果，无论传统风险因素如何，基因组风险干预对客观测量的 12 个月紫外线暴露没有影响。对于 12 个月的次要结果，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。黑色素瘤相关的担忧减少了。对一般心理困扰没有总体影响。