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. 2023 Dec 20;190(1):37-44.
doi: 10.1093/bjd/ljad333.

Does genetic risk modify the effect of skin screening on melanoma detection rates?

Nirmala Pandeya  1   2 , Jean Claude Dusingize  1 , Catherine M Olsen  1   2 , Stuart MacGregor  1 , Rachel E Neale  1   2 , Matthew H Law  1   3   4 , David C Whiteman  1   2
Affiliations

Does genetic risk modify the effect of skin screening on melanoma detection rates?

Nirmala Pandeya et al. Br J Dermatol. .

Abstract

Background: Skin screening is associated with higher melanoma detection rates, a potential indicator of overdiagnosis, but it remains possible that this effect is due to confounding by genetic risk.

Objectives: To compare melanoma incidence among screened vs. unscreened participants within tertiles of genetic risk.

Methods: We investigated melanoma incidence in the QSkin study, a prospective cohort study which for this analysis comprised 15 283 participants aged 40-69 years with genotype data and no prior history of melanoma. We calculated a polygenic score (PGS) for melanoma. We first calculated the age-standardized rate (ASR) of melanoma within PGS tertiles, and then measured the association between skin examination and melanoma detection by calculating the hazard ratio (HR) and 95% confidence interval (95% CI), overall and within PGS tertiles.

Results: Melanoma incidence increased with PGS (ASR per 100 000 per year): tertile 1 = 442; tertile 2 = 519; tertile 3 = 871. We found that the HRs for all melanomas (i.e. in situ and invasive) associated with skin examination differed slightly across PGS tertiles [age- and sex-adjusted tertile 1 HR 1.88 (95% CI 1.26-2.81); tertile 2 HR 1.70 (95% CI 1.20-2.41); tertile 3 HR 1.96 (95% CI 1.43-2.70); fully adjusted tertile 1 HR 1.14 (95% CI 0.74-1.75); tertile 2 HR 1.21 (95% CI 0.82-1.78); tertile 3 HR 1.41 (95% CI 1.00-1.98)], but these differences were not statistically significant. HRs for in situ melanoma associated with skin examination were similar across PGS tertiles. For invasive melanomas, the point estimates appeared to be highest in PGS tertile 3 in both the minimally adjusted (age, sex) and fully adjusted models; however, these apparent differences were also not statistically significant.

Conclusions: Genetic risk predicts subsequent melanoma incidence, and is weakly associated with screening behaviour, but it does not explain the higher rate of melanoma detection between screened and unscreened people.

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Conflict of interest statement

Conflicts of interest All authors have completed the ICMJE uniform disclosure form at www.icmje.org/coi_disclosure.pdf and declare grant and salary support only from the organizations listed above. D.C.W. has received honoraria and travel reimbursement for speaking at dermatology and oncology conferences. The authors declare no financial relationships with any organizations that might have an interest in the submitted work in the previous 3 years; and no other relationships or activities that could appear to have influenced the submitted work.

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