CDKN2A testing and genetic counseling promote reductions in objectively measured sun exposure one year later

Abstract

This study investigated whether genetic counseling and test reporting for the highlypenetrant CDKN2A melanoma predisposition gene promoted decreases in sun exposure. Method: A prospective, non-equivalent control group design compared unaffected participants (N=128, M age =35.24, 52% men) from: 1) families known to carry a CDKN2A mutation, who received counseling about management recommendations and a positive or negative genetic test result, and 2) "no-test control" families known not to carry a CDKN2A mutation, who received equivalent counseling based on their comparable family history. Changes in daily UVR exposure (joules/m 2), skin pigmentation (Melanin Index), and sunburns between baseline and one year following counseling were compared among carriers (n=32), noncarriers (n=46), and no-test control participants (n=50). Results: Both carriers and no-test control participants exhibited a decrease one year later in daily UVR dose (Bs=−.52, −.33, ps<.01). Only carriers exhibited a significant decrease in skin pigmentation at the wrist one year later (B=−.11, p< .001), and both carriers and no-test control participants reported fewer sunburns than noncarriers (ps<.05). Facial pigmentation did not change for any group. Noncarriers did not change on any measure of UVR exposure. Conclusions: These findings support the clinical utility of disclosing CDKN2A test results and providing risk-management education to high-risk individuals. Users may view, print, copy, and download text and data-mine the content in such documents, for the purposes of academic research, subject always to the full Conditions of use:

A Randomized Trial of Precision Prevention Materials to Improve Primary and Secondary Melanoma Prevention Activities among Individuals with Limited Melanoma Risk Phenotypes

“…Our finding of an increased likelihood to practice sun-protective behaviors among participants receiving precision prevention materials is consistent with findings from other studies showing improvements in selected primary and secondary melanoma prevention behaviors [26][27][28]. However, these studies enrolled individuals from families with hereditary melanoma, examined the receipt of genetic testing results in the highly penetrant CDKN2A gene, and provided genetic counseling in the intervention arms.…”

A Systematic Review on the Impact of Genetic Testing for Familial Melanoma I: Primary and Secondary Preventative Behaviours

“…The study found no difference in facial melanin index scores between groups at follow-up; however, dorsal wrist melanin index scores decreased significantly from baseline in carriers 1 year after disclosure [31]. In addition, both carriers and controls significantly decreased their daily UVR exposure over time, carriers reported fewer sunburns, while no significant change was measured for non-mutation carriers [31]. In this cohort, carriers reported higher SPB motivation than both non-carriers and controls (counselling only) [32].…”

“…Lastly, a study providing genetic testing for minors found that, regardless of carrier status, discussion about melanoma prevention increased from the 1-month to 1-year time point for both parents (36-73%) and children (61-67%) [25]. Sun-Protective Behaviour Sun-protective behaviour (SPB) was reported in 11 articles, from 8 unique studies [21,22,[25][26][27][28][29][30][31][32][33]. Studies assessed a range of SPB, including sunscreen use, protective clothing, avoiding sun exposure and tanning.…”

“…Two years after disclosure, a significant decrease in reported sunburns for the previous 6 months was identified among unaffected carriers (2.01 at baseline, to 0.60 at 2 years) [30]. A more recent study from Utah followed carriers (n = 31), noncarriers (n = 46) and "no-test" controls (n = 49) for 1 year, using objective measures of UVR meters, melanin index scores measured by reflectance spectrometry, and reported sunburns as an indicator of excessive sun exposure [31]. The study found no difference in facial melanin index scores between groups at follow-up; however, dorsal wrist melanin index scores decreased significantly from baseline in carriers 1 year after disclosure [31].…”

“…A more recent study from Utah followed carriers (n = 31), noncarriers (n = 46) and "no-test" controls (n = 49) for 1 year, using objective measures of UVR meters, melanin index scores measured by reflectance spectrometry, and reported sunburns as an indicator of excessive sun exposure [31]. The study found no difference in facial melanin index scores between groups at follow-up; however, dorsal wrist melanin index scores decreased significantly from baseline in carriers 1 year after disclosure [31]. In addition, both carriers and controls significantly decreased their daily UVR exposure over time, carriers reported fewer sunburns, while no significant change was measured for non-mutation carriers [31].…”