CDKN2A testing and genetic counseling promote reductions in objectively measured sun exposure one year later
Menée auprès de 128 personnes (52% d'hommes ; âge moyen : 35,24 ans ; durée de suivi : 1 an), cette étude analyse l'effet, sur les comportements d'exposition au soleil, de recommandations associées à la réalisation d'un test génétique révélant la présence ou non d'un variant du gène CDKN2A prédisposant au mélanome
Purpose : This study investigated whether genetic counseling and test reporting for the highly penetrant CDKN2A melanoma predisposition gene promoted decreases in sun exposure. Methods : A prospective, nonequivalent control group design compared unaffected participants (N = 128, Mage = 35.24, 52% men) from (1) families known to carry a CDKN2A pathogenic variant, 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 pathogenic variant, who received equivalent counseling based on their comparable family history. Changes in daily ultraviolet radiation (UVR) exposure (J/m2), 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 (B = −0.52, −0.33, p < 0.01). Only carriers exhibited a significant decrease in skin pigmentation at the wrist one year later (B = −0.11, p < 0.001), and both carriers and no-test control participants reported fewer sunburns than noncarriers (p < 0.05). 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.
Genetics in Medicine 2019