Protocol for a Randomised Controlled Trial to evaluate psychosocial and behaviour impact of providing personalised risk scores for melanoma

This study recruited from a larger Australian cohort (a study registered under ACTRN12619001706167) and used a single-blind, longitudinal two-arm randomised controlled design to evaluate the value and impact of incorporating PRS information into melanoma risk assessments. Participants were randomised to receive a ‘traditional’ melanoma risk score based on clinical and environmental risk factors (control group), or ‘personalised’ melanoma risk score based PRS, clinical, and environmental risk factors (intervention group). Participants received their melanoma risk scores in the form of an information booklet and were offered a follow-up appointment to discuss the results. Individuals in the control group were offered a personalised risk booklet after 12 months. For the intervention group, personalised risk scores were calculated using PRS scores and traditional risk factors (nevus counts, hair colour, first-degree family history of melanoma, personal history of melanoma and keratinocyte (non-melanoma) skin cancer, previous sunbed use, age, sex and country/state of birth) previously identified as significant predictors of melanoma risk. The final personalised risk score were developed using established methodology to evaluate the incremental contribution of genetic risk factors (SNPs), together with the traditional clinical and lifestyle factors. Ten-year risk scores were calculated based on previously described methods (doi.org:10.1111/jdv.19279; doi.org:10.1111/bjd.18524; doi: 10.1016/j.jid.2018.05.023) and adjusted according to melanoma incidence rates by geographical location, age, and sex using the Australian Institute Health and Welfare statistics. A genetic counsellor created each of the booklets and was available to discuss the results, upon request. A mixed methods approach assessed impacts of receiving traditional versus personalised melanoma risk scores. Questionnaires were administered at baseline, 1-month, and 12-months to capture psychosocial (i.e. perception of risk and control, empowerment, genetic testing specific distress, uncertainty and experience, and personal utility) and behavioural outcomes (i.e. communication with healthcare professionals, attitudes and confidence toward risk management, sun-protective behaviours, skin surveillance and accessing informational resources). Qualitative interviews will be conducted with control group participants who elect to receive their PRS information at 12-month follow-up, to explore if they perceived any additional value in receiving PRS information. Adherence was not an issue for this study as participants received a single risk booklet after baseline surveys were completed. Additionally, the control cohort will receive a second booklet (PRS+traditional risk factors) at 12 months. This information is not available through other avenues so we do not need to worry about control arm participants pursuing the PRS information through another avenue. Personalisation of the data is made possible as participants provided demographic and clinical information when they participated in the parent study (ACTRN12619001706167). At that time they also provided a saliva sample for genetic analysis. This group were invited to participate in this study in January and February of 2024 to evaluate the significance of receiving this information. Surveys were completed at baseline, one month following receipt of results and will be completed at 12 months following result disclosure. Qualitative interviews will also be completed after 12 months for the control group.