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在澳大利亚,将线粒体疾病的基因组测试纳入主流

Megan Ball^1,2,3, Naomi Baker⁴, Sze Chern Lim⁴

¹Murdoch Children's Research Institute, Melbourne, VIC, Australia. megan.ball@mcri.edu.au.

European journal of human genetics : EJHG

|February 26, 2026

概括

在澳大利亚,针对线粒体疾病的公共资助的基因组测序 (GS) 显示出希望,实现了20%的诊断产量. 需要努力改善接入,特别是在偏远地区,以获得更广泛的影响.

科学领域:

遗传学是一个遗传学.
基因组医学是基因组医学.
临床诊断临床诊断临床诊断

背景情况:

基因组测序 (GS) 已经彻底改变了线粒体疾病的诊断,但临床整合受到访问和资金障碍的阻碍.
澳大利亚的医疗保险福利计划 (MBS) 在2023年11月为线粒体疾病引入了公共资助的GS,旨在增加测试可访问性.

研究的目的:

评估公共资助的基因组测序 (GS) 在澳大利亚诊断线粒体疾病的后实施影响.
评估测试采用率,诊断产量,周转时间,并确定改善访问的领域.

主要方法:

进行了针对线粒体疾病的MBS资助的GS的实施后评估.
从2023年11月到2025年5月的测试请求数据,包括人口统计,表型和结果,从一个关键实验室提供商分析.

主要成果:

测试采用率为预测的26%,区域/偏远地区的比例较低.
在19个月的时间里,300个人接受了GS,产生了20%的诊断率 (56%在已知的基因中,70%在线粒体DNA中).
在之前进行过非诊断性遗传检测的患者中,诊断了17例.

结论:

公开资助的GS可以在全国范围内实现线粒体疾病的显著诊断结果.
确保公平的接入,特别是服务不足的地区,以及开发可持续的整合模式,对于最大限度地发挥影响至关重要.

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