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

Abstract

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.

Fig. 1. CONSORT flow diagram.

*Participants excluded from analysis of primary outcome where they had no ultraviolet (UV) dosimeter data.

Fig. 2

(a) Objectively measured daily standard erythemal doses (SEDs) at baseline, follow-up 1 and 2 for intervention and control arms, stratified by traditional risk groups. Vertical bars indicate 95% confidence intervals (CI). At follow-up 1, the percentage difference and 95% CI comparing intervention with control arms in the low traditional risk group was 4.60% (95% CI: −5.08, 15.27; p = 0.36) and 2.49% (95% CI: −7.94, 14.14; p = 0.65) in the high traditional risk group. At follow-up 2, the percentage differences were 1.03% (95% CI: −4.84, 7.26; p = 0.74) and −1.44 (95% CI: −6.89 to 4.33, p = 0.62), respectively. (b) Self-reported daily total time spent outdoors at baseline, follow-up 1 and 2 for intervention and control arms, stratified by traditional risk groups. Vertical bars indicate 95% CI. At follow-up 1, the mean difference comparing intervention with control arms in the low traditional risk group was 0.07 (95% CI: −0.15, 0.30; p = 0.53) and −0.21 (95% CI: −0.43, 0.02; p = 0.07) in the high traditional risk group. At follow-up 2, the mean differences were 0.17 (95% CI: −0.06, 0.39; p = 0.15) and −0.03 (95% CI: −0.26, 0.20; p = 0.79), respectively. (c) Intentional tanning frequency (mean score of 1 item on Likert scale 1_never—5_always) at baseline, follow-up 1 and 2 for intervention and control arms, stratified by traditional risk groups. Vertical bars indicate 95% CI. At follow-up 1, the mean difference comparing intervention with control arms in the low traditional risk group was −0.10 (95% CI: −0.19, −0.01; p = 0.03) and −0.03 (95% CI: −0.11, 0.06; p = 0.53) in the high traditional risk group. At follow-up 2, the mean differences were −0.00 (95% CI: −0.09, 0.09; p = 1.00) and −0.02 (95% CI: −0.11, 0.06; p = 0.62), respectively. (d) Sun Protection Habits Index (mean score of Likert scale: 1_never/rarely—4_always, for six sun protection behaviors) at baseline, follow-up 1 and 2 for intervention and control arms, stratified by traditional risk groups. Vertical bars indicate 95% CI. At follow-up 1, the mean difference comparing intervention with control arms in the low traditional risk group was −0.03 (95% CI: −0.10, 0.04; p = 0.43) and 0.12 (95% CI: 0.05, 0.19; p = <0.001) in the high traditional risk group. At follow-up 2, the mean differences were −0.01 (95% CI: −0.08, 0.06; p = 0.83) and 0.06 (95% CI: −0.01, 0.13; p = 0.08), respectively. (e) Sunscreen use (one item from the Sun Protection Habits Index; mean score of Likert scale: 1_never/rarely—4_always) at baseline, follow-up 1 and 2 for intervention and control arms, stratified by traditional risk groups. Vertical bars indicate 95% CI. At follow-up 1, the mean difference comparing intervention with control arms in the low traditional risk group was −0.06 (95% CI: −0.19, 0.08; p = 0.41) and 0.28 (95% CI: 0.15, 0.42; p = <0.001) in the high traditional risk group. At follow-up 2, the mean differences were -0.07 (95% CI: −0.21, 0.06; p = 0.28) and 0.08 (95% CI: −0.06, 0.22; p = 0.26), respectively. (f) Hat use (one item from the Sun Protection Habits Index; mean score of Likert scale: 1_never/rarely—4_always) at baseline, follow-up 1 and 2 for intervention and control arms, stratified by traditional risk groups. Vertical bars indicate 95% CI. At follow-up 1, the mean difference comparing intervention with control arms in the low traditional risk group was −0.11 (95% CI: −0.24, 0.01; p = 0.08) and 0.16 (95% CI: 0.04, 0.29; p = 0.01) in the high traditional risk group. At follow-up 2, the mean differences were 0.01 (95% CI: −0.12, 0.14; p = 0.90) and 0.00 (95% CI: −0.12, 0.13; p = 0.97), respectively.

Fig. 3. Relative risks and 95% confidence intervals for whole-body skin examinations (any versus none; clinical or self-conducted) and sunburns (any versus none) at 1- and 12-month follow-up comparing intervention with control, stratified by traditional risk groups and gender.

The black vertical line is the line of no effect (i.e., the position at which there is no clear difference between study groups). Estimates to the right of the black vertical line indicate that the event (skin examinations or sunburns) occurred more frequently in the intervention group than the control group, and estimates to the left of the black vertical line indicate that the event occurred less frequently in the intervention group than the control group.