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对父母对致病性和不确定的儿科瘤学生殖系测序结果的反思的内容分析
Katianne M Howard Sharp1, Mary Egan Clark2,3, Niki Jurbergs4
1Department of Psychology and Biobehavioral Sciences, St. Jude Children's Research Hospital, 262 Danny Thomas Place, Mail Stop 740, Memphis, TN, 38105, USA. Katianne.sharp@stjude.org.
Familial cancer
|September 20, 2024
概括
孩子出生后,父母经历了各种情绪.
科学领域:
- 儿科瘤学 儿科瘤学
- 基因组医学是基因组医学.
- 心理社会瘤学
背景情况:
- 胚胎基因组测序越来越多地用于儿科癌症护理.
- 在5-18%的儿童中发现了致病变体,在70%的儿童中发现了不确定的意义 (VUS) 的变体.
- 了解父母对基因组结果的心理社会反应是非常重要的,因为它具有医学意义.
研究的目的:
- 为了探索父母对生殖基因组测序结果 (致病性或VUS) 的认知和情感反应,在他们的孩子患有癌症.
- 通过不同类型的基因组结果来比较父母的反应.
- 确定家长应对策略和对结果不确定性的反应.
主要方法:
- 对父母 (n=70) 关于他们孩子的生殖基因组测序结果的开放式书面答复的内容分析.
- 平均而言,回复是在披露后的10个月内收集的 (范围为1-28个月).
- 基于结果类型 (致病性,VUS,致病性+VUS) 的答案的统计比较 (基平方,费舍尔精确测试).
主要成果:
- 父母报告了消极的情绪,积极的反应,混合的情绪和中立的反应.
- 与VUS相比,负面情绪在病原性结果中明显更频繁 (p=.02).
- 心的平静和赋权仅在VUS结果中报告;应对策略和VUS特定反应 (例如,失望) 也被注意到.
结论:
- 父母的情绪和认知反应因所收到的生殖基因组测序结果的类型而异.
- 对于收到致病结果的父母,建议对情绪调整进行查.
- 对于接受VUS结果的父母来说,建议对理解进行查,强调需要遗传咨询.
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