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对继承性视网膜疾病的赞助基因测试小组的结果进行比较
Yicheng K Bao1, Betty A Situ1, Margaret Runner2
1Department of Ophthalmology, USC Roski Eye Institute, Keck School of Medicine, University of Southern California, 1450 San Pablo Street, Los Angeles, CA 90033, USA.
Journal of clinical medicine
|June 19, 2024
概括
遗传视网膜疾病 (IRD) 的基因测试小组改善了获取,但显示了Invitae和蓝图遗传学之间的不同诊断产量和变异分类. 对未知意义的变异 (VUS) 的仔细解释对于临床决策至关重要.
科学领域:
- 眼科医生 眼科 眼科
- 遗传学 遗传学 是一个
- 分子诊断学 分子诊断学
背景情况:
- 基因治疗的兴起增加了遗传视网膜疾病 (IRD) 分子诊断的临床重要性.
- 虽然免费的基因测试小组提高了可访问性,但解释结果,特别是未知意义的变异 (VUS),仍然是一个复杂的挑战,需要专门的专业知识.
- 本研究评估了由Invitae和蓝图遗传学 (BG) 赞助的IRD遗传测试小组的实用性和差异.
研究的目的:
- 报告来自Invitae和蓝图遗传学的遗传性视网膜疾病基因测试小组的阳性率.
- 为了比较Invitae和蓝图遗传学之间的变异重新分类和修改过程.
- 评估变异分类变化对IRD遗传测试整体诊断产量的影响.
主要方法:
- 一个回顾性分析的基因测试报告从患者接受IRD面板测试与Invitae或蓝图遗传学.
- 基于突变类型 (自体主导,自体衰退,X链) 和遗传模式的阳性测试的定义.
- 两种测试平台之间的阳性率,病原变异数量和修改频率的比较.
主要成果:
- 受邀者 (n=109) 的阳性率为34.9%,BG (n=107) 的阳性率为42.1%.
- 与BG相比,Invitae报告了每次测试中更多的致病变体 (0.87对0.58),并发布了显著更多的修订 (0.54对0.03).
- 大多数Invitae的重新分类将VUS改为良性 (66.2%),而BG主要将VUS重新分类为致病性 (75%). 最重要的是,88%的邀请人修正案没有改变最终报告的解释.
结论:
- 免费基因测试面板为IRD提供了有价值的诊断信息,但在诊断产量方面存在局限性,并且在提供者之间存在分类差异.
- 在临床决策中,未知意义的变异 (VUS) 应谨慎解释,而不是将其视为致病性.
- 专家对遗传检测结果的解释对于准确诊断和治疗遗传性视网膜疾病至关重要.
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