传统的临床特征无法预测患有的成年人基因测试的结果
Wei Zhao1, Yi-Lee Ting2, Kaley J Marcinski Nascimento3
1Texas Institute of Restorative Neurotechnologies (TIRN), University of Texas Health Science Center (UTHealth), Houston, TX, USA; Department of Neurology, Washington University School of Medicine, St. Louis, MO, USA.
仅仅临床因素无法预测患者成年人的遗传检测结果是肯定的. 对于无法解释的病例,可能需要进行常规基因检测.
科学领域:
- 神经学 神经学
- 临床遗传学 临床遗传学
背景情况:
- 对的基因测试越来越普遍,指南建议使用.
- 预测模型可以帮助识别可能从基因测试中受益的成年患者.
研究的目的:
- 开发和评估一种风险预测模型,用于在患有的成年人中获得阳性遗传测试结果.
- 评估传统临床特征在预测遗传检测结果中的有用性.
主要方法:
- 开发了后勤回归和FasterRisk模型,使用训练组中的1449名成年人的临床数据.
- 在1450名接受了多基因小组测试的成年人的独立测试组上验证了模型.
主要成果:
- 预测模型表现出差的辨别能力,并且无法准确预测遗传检测结果的阳性.
- 传统的临床特征,包括人口统计和类型,是不充分的预测因素.
结论:
- 仅凭临床特征就不足以选择成年患者进行基因检测.
- 广泛推基因检测无法解释的成年可能是合适的.
- 未来的模型应该包含神经成像,EEG和体检数据,以改善预测.
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