在风湿病学中对遗传检测的意想不到的高需求:一个横截面队列研究
Lukas Kampik1, Michael Schirmer1
1Department of Internal Medicine, Clinic II, Medical University of Innsbruck, 6020 Innsbruck, Austria.
Genes
|October 28, 2023
概括
遗传检测对于风湿病患者来说非常重要,超过一半的人可能受益. 然而,实际的测试率,特别是对于药物遗传学,仍然很低,这表明个性化医学的资源未得到充分利用.
科学领域:
- 类风湿病学 类风湿病学
- 临床遗传学 临床遗传学
- 药物基因组学 药物基因组学
背景情况:
- 基因检测提供了诊断,预后和药物遗传学的见解.
- 之前的研究,如PREPARE,证明基因型导向治疗减少了药物不良反应.
- 本研究评估了在风湿病外科患者中进行基因检测的必要性和使用情况.
研究的目的:
- 评估基因测试在风湿病患者队列中的临床相关性和实际应用.
- 确定基因检测对诊断,预后和药物遗传学的潜在好处.
- 分析不同年龄组对遗传测试的需要和执行之间的差距.
主要方法:
- 对前性收集的数据进行回顾性横截面分析.
- 包括连续从大学风湿病理诊所招募的门诊患者.
- 数据分析侧重于患者的诊断,治疗,并进行遗传测试.
主要成果:
- 在2490名患者中,57.3%的人可能受益于基因检测.
- 实际基因测试在53.3%的患者中进行了各种目的的基因测试.
- 诊断 (26.9%) 和治疗 (28.0%) 应用显示了潜在需求的最高水平,而药物遗传学测试 (3.7%) 却未得到充分利用,特别是在并发病症中.
结论:
- 在患有类风湿性疾病的患者中,基因检测通常是适用的.
- 药物遗传学测试的实用性被低估了,特别是在与伴随疾病相关的药物管理方面.
- 在风湿病治疗中,基因检测的潜在需要和实际使用之间存在很大的差异,随年龄而异.
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