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CDKN2A 基因检测报告可为管理黑色素瘤风险提供信息和激励。

Genetic test reporting of CDKN2A provides informational and motivational benefits for managing melanoma risk.

机构信息

Department of Psychology, University of Utah, Salt Lake City, UT, USA.

Huntsman Cancer Institute, University of Utah, Salt Lake City, UT, USA.

出版信息

Transl Behav Med. 2018 Jan 29;8(1):29-43. doi: 10.1093/tbm/ibx011.

Abstract

A CDKN2A/p16 mutation confers 28%-67% lifetime melanoma risk, a risk that may be moderated by ultraviolet radiation exposure. The aim of this study was to test whether melanoma genetic counseling and test disclosure conferred unique informational, motivational, or emotional benefits compared to family history-based counseling. Participants included were 114 unaffected members of melanoma-prone families, ages 16-69, 51.8% men, 65.8% with minor children or grandchildren. Carriers (n = 28) and noncarriers (n = 41) from families with a CDKN2A mutation were compared to no-test controls (n = 45) from melanoma-prone families without an identifiable CDKN2A mutation. All participants received equivalent counseling about melanoma risk and management; only CDKN2A participants received genetic test results. Using newly developed inventories, participants rated perceived costs and benefits for managing their own and their children's or grandchildren's melanoma risk 1 month and 1 year after counseling. Propensity scores controlled for baseline family differences. Compared to no-test controls, participants who received test results (carriers and noncarriers) reported feeling significantly more informed and prepared to manage their risk, and carriers reported greater motivation to reduce sun exposure. All groups reported low negative emotions about melanoma risk. Parents reported high levels of preparedness to manage children's risk regardless of group. Carrier parents reported greater (but moderate) worry about their children's risk than no-test control parents. Women, older, and more educated respondents reported greater informational and motivational benefits regardless of group. Genetic test results were perceived as more informative and motivating for personal sun protection efforts than equivalent counseling based on family history alone.

摘要

CDKN2A/p16 基因突变可导致 28%-67%的终身黑色素瘤风险,而这种风险可能会因紫外线辐射暴露而降低。本研究的目的是测试与基于家族史的咨询相比,黑色素瘤遗传咨询和测试结果披露是否会带来独特的信息、动机或情感益处。参与者包括 114 名无黑色素瘤病史的高危家族成员,年龄在 16-69 岁之间,其中 51.8%为男性,65.8%有未成年子女或孙辈。将携带有 CDKN2A 突变的家族(n=28)中的携带者和非携带者(n=41)与无可识别的 CDKN2A 突变的黑色素瘤高危家族中的无测试对照组(n=45)进行比较。所有参与者都接受了关于黑色素瘤风险和管理的同等咨询;只有 CDKN2A 参与者接受了基因测试结果。使用新开发的清单,参与者在咨询后 1 个月和 1 年内对自己和子女或孙辈的黑色素瘤风险的管理进行了感知成本和益处的评估。倾向评分控制了基线家庭差异。与无测试对照组相比,接受测试结果(携带者和非携带者)的参与者报告说,他们对管理自己的风险感到更加知情和有准备,而携带者报告说,他们更有动机减少日晒。所有组都报告了对黑色素瘤风险的低负面情绪。无论组别如何,父母都报告说,他们有高度的准备来管理孩子的风险。携带者父母比无测试控制组父母更担心他们孩子的风险。无论组别如何,女性、年龄较大和受教育程度较高的受访者报告说,无论组别如何,他们的信息和动机都有更大的好处。与仅基于家族史的等效咨询相比,基因测试结果被认为对个人防晒措施更具信息性和激励性。

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