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黑色素瘤遗传咨询和检测报告可提高 2 年后未受影响携带者的筛查依从性。

Melanoma genetic counseling and test reporting improve screening adherence among unaffected carriers 2 years later.

机构信息

Authors' Affiliations: Departments of Psychology, and Dermatology, and Huntsman Cancer Institute, University of Utah, Salt Lake City, Utah.

出版信息

Cancer Epidemiol Biomarkers Prev. 2013 Oct;22(10):1687-97. doi: 10.1158/1055-9965.EPI-13-0422. Epub 2013 Aug 15.

Abstract

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 (TBSE) and monthly skin self-examinations (SSE) among 37 members of Utah CDKN2A/p16 kindreds (10 unaffected carriers, 11 affected carriers, and 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.

摘要

背景

预测性黑色素瘤基因检测的主要目标是促进早期检测以降低死亡率。本研究评估了黑色素瘤基因检测报告和咨询对筛查依从性的长期影响。

方法

本研究评估了 37 名犹他州 CDKN2A/p16 家族成员(10 名无相关突变携带者、11 名有相关突变携带者和 16 名无相关非携带者;应答率=符合条件的参与者的 64.9%)对年度全身皮肤检查(TBSE)和每月皮肤自我检查(SSE)建议的依从性。

结果

在报告检测结果两年后,无相关突变携带者的年度 TBSE 依从率从 40%增加到 70%。然而,无相关非携带者的依从率从 56%下降到 13%。有相关突变携带者在两次评估中都报告了 TBSE(分别为 91%和 82%)。所有患者群体的每月 SSE 频率仍然高度变化:在 2 年时,29.7%的人报告每月进行 SSE,27.0%的人报告更频繁的自我检查,43.2%的人报告筛查不足。然而,SSE 质量显著提高:与基线相比,参与者在 2 年时检查了更多的身体部位,特别是脚部、肩部、腿部和生殖器。对 TBSE(例如,昂贵、不便)和 SSE(难以记住、耗时)的感知逻辑障碍预测了较低的依从性。

结论

在黑色素瘤基因检测报告两年后,无相关突变携带者报告 TBSE 依从性和 SSE 检查的全面性增加,这表明在这个适度的样本中存在临床获益。无相关非携带者报告 SSE 检查的全面性增加,但 TBSE 减少。

影响

黑色素瘤基因咨询和检测报告可能会提高 p16 家族无相关突变携带者的依从性。可能需要进一步的干预措施来减少逻辑障碍,并促进无相关非携带者家族成员的持续筛查依从性。

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