The melanoma genomics managing your risk study: A protocol for a randomized controlled trial evaluating the impact of personal genomic risk information on skin cancer prevention behaviors

Smit, Amelia K.; Newson, Ainsley J; Morton, Rachael L.; Kimlin, Michael G.; Keogh, Louise; Law, Matthew H.; Kirk, Judy; Dobbinson, Suzanne; Kanetsky, Peter A.; Fenton, Georgina; Allen, Martin W.; Butow, Phyllis; Dunlop, Kate; Trevena, Lyndal; Lo, Serigne; Savard, Jacqueline; Dawkins, Hugh; Wordsworth, Sarah; Jenkins, Mark A.; Mann, Graham J.; Cust, Anne E.

doi:10.1016/j.cct.2018.05.014

Cited by 19 publications

(23 citation statements)

References 77 publications

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“…Our stratified analyses suggest that the improvement in discrimination might be better for those with a low or average traditional risk score. Studies are underway to evaluate the impact on sun-related behaviors of giving personalized melanoma genomic risk information ( Kanetsky and Hay, 2017 , Smit et al., 2018 ).…”

Section: Discussionmentioning

confidence: 99%

Assessing the Incremental Contribution of Common Genomic Variants to Melanoma Risk Prediction in Two Population-Based Studies

Drummond

Kanetsky

Goldstein

et al. 2018

Journal of Investigative Dermatology

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It is unclear to what degree genomic and traditional (phenotypic and environmental) risk factors overlap in their prediction of melanoma risk. We evaluated the incremental contribution of common genomic variants (in pigmentation, nevus, and other pathways) and their overlap with traditional risk factors, using data from two population-based case-control studies from Australia (n = 1,035) and the United Kingdom (n = 1,460) that used the same questionnaires. Polygenic risk scores were derived from 21 gene regions associated with melanoma and odds ratios from published meta-analyses. Logistic regression models were adjusted for age, sex, center, and ancestry. Adding the polygenic risk score to a model with traditional risk factors increased the area under the receiver operating characteristic curve (AUC) by 2.3% (P = 0.003) for Australia and by 2.8% (P = 0.002) for Leeds. Gene variants in the pigmentation pathway, particularly MC1R, were responsible for most of the incremental improvement. In a cross-tabulation of polygenic by traditional tertile risk scores, 59% (Australia) and 49% (Leeds) of participants were categorized in the same (concordant) tertile. Of participants with low traditional risk, 9% (Australia) and 21% (Leeds) had high polygenic risk. Testing of genomic variants can identify people who are susceptible to melanoma despite not having a traditional phenotypic risk profile.

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Section: Discussionmentioning

confidence: 99%

Assessing the Incremental Contribution of Common Genomic Variants to Melanoma Risk Prediction in Two Population-Based Studies

Drummond

Kanetsky

Goldstein

et al. 2018

Journal of Investigative Dermatology

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“…A limitation is that the study sample had higher than average education levels and an interest in cancer research, which may influence participants’ health literacy and level of motivation for behaviour change, and therefore the transferability of these results to all population subgroups. Further research is underway to assess quantitatively the impacts of genomic risk information on melanoma prevention and screening behaviours …”

Section: Discussionmentioning

confidence: 99%

“…Further research is underway to assess quantitatively the impacts of genomic risk information on melanoma prevention and screening behaviours. 32 As genetic testing becomes more widespread, these results are important for informing the types of behavioural and emotional responses that might be stimulated by delivering melanoma genomic risk information to the general population. They will also guide the preparation of educational and support resources for clinicians, patients and the community to maximize the benefits and minimize the harms of genomic testing.…”

Section: Discussionmentioning

confidence: 99%

Exploring the emotional and behavioural reactions to receiving personalized melanoma genomic risk information: a qualitative study

et al. 2019

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Summary Background There is a need for greater understanding of the spectrum of emotional and behavioural reactions that individuals in the general population may experience in response to genomic testing for melanoma risk. Objectives To explore how individuals in the general population respond to receiving personalized genomic risk of melanoma. Methods Semistructured interviews were undertaken with 30 participants (aged 24–69 years, 50% female, 12 low risk, eight average risk, 10 high risk) recruited from a pilot trial in which they received personalized melanoma genomic risk information. We explored participants’ emotional and behavioural responses to receiving their melanoma genomic risk information. The qualitative data were analysed thematically. Results Many participants reported a positive response to receiving their melanoma genomic risk, including feelings of happiness, reassurance and gaining new knowledge to help manage their melanoma risk. Some participants reported short‐term negative emotional reactions that dissipated over time. Most individuals, particularly those who received average or high‐risk results, reported making positive behaviour changes to reduce their melanoma risk. Emotional and behavioural responses were linked to participants’ expectations for their risk result, their pre‐existing perception of their own melanoma risk, their existing melanoma preventive behaviours and their genomic risk category. Conclusions Personalized melanoma genomic risk information alongside education and lifestyle counselling is favourably received by people without a personal history and unselected for a family history of melanoma. Participants described increased knowledge and awareness around managing skin cancer risk and improved sun protection and skin examination behaviours. Any initial feelings of distress usually dissipated over time.

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“…• domains. Two domains of risk, 'Health and Safety' and 'Social' were shown to be relevant to a preventive intervention for sun protection behaviours in our pilot study [13,39] and were included in the baseline questionnaire; the items are shown in 03. For the assessment of:…”

Section: Nomentioning

confidence: 99%

“…The Melanoma Genomics Managing Your Risk Study, an innovative randomised controlled trial (RCT), aims to establish if providing personal genomic risk information modifies preventive behaviours, compared to receiving standard prevention advice on melanoma preventive behaviours. A pilot RCT demonstrating feasibility and acceptability, and the trial protocol, were previously published [12,13]. The study was prospectively registered (ANCTRN 12615000356561).…”

Section: Introduction Prefacementioning

confidence: 99%

The Melanoma Genomics Managing Your Risk Study randomised controlled trial: Statistical Analysis Plan

Smit

Espinoza

et al. 2020

Preprint

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Background: The Melanoma Genomics Managing Your Risk Study is a randomised controlled trial that aims to evaluate the efficacy of providing information on personal genomic risk of melanoma in reducing ultraviolet radiation (UV) exposure, stratified by traditional risk group (low or high phenotypic risk) in the general population. The primary outcome is objectively measured total daily Standard Erythemal Doses at 12 months. Secondary outcomes include UV exposure at specific time periods, self-reported sun protection and skin-examination behaviors, psychosocial outcomes, and ethical considerations surrounding offering genomic testing at a population level. A within-trial and modelled economic evaluation will be undertaken from an Australian health system perspective to assess the cost-effectiveness of the intervention. Objective: To publish the pre-determined statistical analysis plan (SAP) before database lock and the start of analysis. Methods: This SAP describes the data synthesis, analysis principles and statistical procedures for analysing the outcomes from this trial. The SAP was approved after closure of recruitment and before completion of patient follow-up. It outlines the planned primary analyses and a range of subgroup and sensitivity analyses. Health economic outcomes are not included in this plan but will be analysed separately. The SAP will be adhered to for the final data analysis of this trial to avoid potential analysis bias that may arise from knowledge of the outcome data. Results: This SAP is consistent with best practice and will enable transparent reporting. Conclusion: This SAP has been developed for the Melanoma Genomics Managing Your Risk Study and will be followed to ensure high-quality standards of internal validity and to minimise analysis bias.

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The melanoma genomics managing your risk study: A protocol for a randomized controlled trial evaluating the impact of personal genomic risk information on skin cancer prevention behaviors

Cited by 19 publications

References 77 publications

Assessing the Incremental Contribution of Common Genomic Variants to Melanoma Risk Prediction in Two Population-Based Studies

Assessing the Incremental Contribution of Common Genomic Variants to Melanoma Risk Prediction in Two Population-Based Studies

Exploring the emotional and behavioural reactions to receiving personalized melanoma genomic risk information: a qualitative study

The Melanoma Genomics Managing Your Risk Study randomised controlled trial: Statistical Analysis Plan

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