遗传性乳腺和卵巢癌风险多基因小组测试后的心理困扰
Lindsay Carlsson1,2, Philippe L Bedard1,3,4, Raymond H Kim3,4,5,6,7
1Phase 1 Drug Development Program, Princess Margaret Cancer Centre, Toronto, Ontario, Canada.
Journal of genetic counseling
|July 23, 2024
概括
对遗传性乳腺和卵巢癌 (HBOC) 的多基因小组测试可能会引起困扰,特别是当发现致病变体 (PV) 或不确定的意义变体 (VUS) 时. 然而,大多数女性对测试感到满意,并会推它.
科学领域:
- 遗传学 是一个遗传学.
- 在瘤学瘤学.
- 心理学 心理学 心理学
背景情况:
- 多基因小组测试越来越多地用于遗传性乳腺和卵巢癌 (HBOC) 易感性.
- 面板测试可以导致遗传不确定性,原因是不确定的意义 (VUS) 的变体和具有不同透度的基因.
- 了解这些结果对心理的影响对于患者护理至关重要.
研究的目的:
- 探索接受多基因小组测试的女性的测试后心理功能,以检测HBOC.
- 评估与癌症相关的和与遗传测试相关的痛苦水平,与遗传测试结果相关.
- 在面板测试后确定影响心理结果的因素.
主要方法:
- 一项涉及295名在过去两年内接受HBOC多基因面板测试的女性的横截面研究.
- 参与者填写了测量痛苦的问卷,使用事件影响量表 (IES) 和癌症风险评估的多维影响 (MICRA).
- 用多重回归分析来检查遗传测试结果与心理痛苦之间的关系.
主要成果:
- 在14%的参与者中发现了一种致病变体 (PV),26%的参与者患有VUS.
- 与负结果相比,患有PV或VUS的个体报告了与基因测试相关的痛苦显著增加.
- 与高风险基因相比,中度透基因中的PV的痛苦水平更高.
- 对基因测试的总体满意度很高,有92%的人推这种体验.
结论:
- 基因测试结果,包括PV和VUS,显著影响了对HBOC进行测试的女性的心理痛苦.
- 基因透性会影响应急水平,中度透性基因变异会比高风险基因变异引起更多的应急.
- 尽管存在潜在的困扰,多基因小组测试通常被参与者容忍并推,这凸显了针对性基因咨询的必要性.
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