儿科病学家的观点和与基因检测和教育相关的临床实践
Hilda E Fernandez1,2, Marissa Lipton3, Olivia Balderes1
1Division of Nephrology, Department of Medicine, Columbia University, New York, NY, USA.
Pediatric nephrology (Berlin, Germany)
|October 9, 2024
概括
儿科病学家认为基因检测对诊断和治疗有价值,但需要更多关于咨询,测试选择和结果解释的教育,以便有效的临床使用.
科学领域:
- 儿科脏病学 儿科脏病学
- 临床遗传学 临床遗传学
- 医学教育 医学教育
背景情况:
- 基因检测在儿科病学中越来越多.
- 儿科科医生对其临床使用的看法基本上是未知的.
研究的目的:
- 评估美国儿科病学家对遗传检测的看法.
- 确定儿童病中基因检测的障碍和促进因素.
主要方法:
- 在线调查分发给美国授权的儿科科医生 (2021年1月至5月).
- 调查包括41项评估对遗传测试的态度和做法的项目.
主要成果:
- 观察到基因咨询的转诊率很高.
- 对遗传检测对诊断,治疗,预后和移植计划的影响有强烈的共识.
- 关键的挑战包括咨询,测试选择,结果解释和沟通.
结论:
- 儿科病学家认识到基因检测的重要性.
- 需要加强教育,以支持将基因检测纳入临床实践.
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