Melanoma genetic counseling and test reporting improve screening adherence among unaffected carriers 2 years later
Menée auprès de 37 participants présentant ou non une mutation des gènes CDKN2A/p16 prédisposant au mélanome, cette étude américaine montre qu'une consultation associée au compte-rendu du test génétique améliore, 2 ans après, l'adhésion aux recommandations sur la détection de la maladie chez les membres de leur famille
Background : A major goal of predictive genetic testing for melanoma is to promote early detection to reduce mortality. This study evaluated the long-term impact of melanoma genetic test reporting and counseling on screening adherence. Methods : This study assessed adherence to recommendations for annual total body skin examinations (TBSEs) and monthly skin selfexaminations (SSEs) among 37 members of Utah CDKN2A/p16 kindreds (10 unaffected carriers, 11 affected carriers, 16 unaffected noncarriers; response rate=64.9% of eligible participants). Results : Two years following test reporting, adherence to annual TBSE among unaffected carriers increased from 40% to 70%. However, unaffected noncarriers' adherence decreased from 56% to 13%. Affected carriers reported TBSEs at both assessments (91% and 82%, respectively). Monthly SSE frequency remained highly variable in all patient groups: at 2 years, 29.7% reported monthly SSEs, 27.0% reported more frequent self-examinations, and 43.2% reported underscreening. However, SSE quality improved significantly: participants checked more body sites at 2 years than at baseline, especially feet, shoulders, legs, and genitals. Perceived logistic barriers to TBSEs (e.g., expensive, inconvenient) and SSEs (hard to remember, time-consuming) predicted lower adherence. Conclusions : Unaffected carriers reported increased TBSE adherence and thoroughness of SSEs 2 years following melanoma genetic test reporting, suggesting clinical benefit in this modest sample. Unaffected noncarriers reported comparable gains in SSE thoroughness, but decreased TBSEs. Impact : Melanoma genetic counseling and test reporting may improve adherence among unaffected carrier members of p16 families. Further interventions to reduce logistic barriers and to promote continued screening adherence among unaffected noncarrier family members may be needed.