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Updated: Jun 9, 2025

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在秘鲁,怀疑患有罕见遗传疾病的患者的临床基因组测序

Jeny Bazalar-Montoya^1,2, Mario Cornejo-Olivas^3,4, Milagros M Duenas-Roque⁵

¹Instituto Nacional de Salud del Niño San Borja, Lima, Peru.

NPJ genomic medicine

|October 29, 2024

概括

秘鲁的临床基因组测序 (cGS) 在超过一半的患者中诊断出罕见的遗传疾病. 这种基因组测试显著改善了患者管理,包括转诊和治疗.

科学领域:

基因组学就是基因组学.
医学遗传学医学遗传学
全球健康全球健康

背景情况:

在低收入和中等收入国家,对分子遗传测试的有限访问阻碍了罕见遗传疾病的诊断.
该iHope计划通过向服务不足的人群提供临床基因组测序 (cGS) 来解决这一差距.
由于在资源有限的环境中测试的局限性,罕见遗传疾病往往缺乏及时诊断.

研究的目的:

评估临床基因组测序 (cGS) 在诊断秘鲁患者罕见遗传疾病中的性能和影响.
评估cGS在来自秘鲁的247名患者队列中的诊断产量和临床效用.
确定cGS结果如何影响临床评估,遗传咨询和患者管理.

主要方法:

临床基因组测序 (cGS) 在秘鲁的三个诊所对247名怀疑患有罕见遗传疾病的患者进行.
分析了之前的遗传测试历史,包括 karyotyping.
记录了诊断产量,对临床评估和咨询的影响,以及随后患者管理的变化.

主要成果:

对cGS的诊断收益率为54.3%,在一半以上的患者中确定了致病变体.
在另外22.3%的病例中报告了候选变体,这表明了潜在的诊断.
cGS结果显著影响了临床医生的诊断评估 (85.0%) 和遗传咨询 (72.1%).
在71.3%的患者中发生了管理变化,包括转诊,治疗和进一步测试.

结论:

临床基因组测序 (cGS) 证明了秘鲁罕见遗传疾病的高诊断效用.
基因组测试显著影响临床决策和患者管理,即使在资源有限的环境中.
扩大秘鲁对基因组测试的准入对于改善罕见遗传疾病患者的诊断和护理至关重要.

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