Department of Human Sciences and Quality of Life Promotion, San Raffaele Open University, via di Val Cannuta 247, 00166 Roma, Italy.
CEINGE-Biotecnologie Avanzate, via G. Salvatore 486, 80145 Naples, Italy.
Genes (Basel). 2021 Jan 2;12(1):60. doi: 10.3390/genes12010060.
The current diagnostic path of infertile couples is long lasting and often ineffective. Genetic tests, in particular, appear as a limiting step due to their jeopardized use on one side, and to the limited number of genes evaluated on the other. In this context, the development and diffusion, also in routine diagnostic settings, of next generation sequencing (NGS)-based methods for the analyses of several genes in multiple subjects at a time is improving the diagnostic sensitivity of molecular analyses. Thus, we developed One4Two, a custom NGS panel to optimize the diagnostic journey of infertile couples. The panel validation was carried out in three steps analyzing a total of 83 subjects. Interestingly, all the previously identified variants were confirmed, assessing the analytic sensitivity of the method. Moreover, additional pathogenic variants have been identified underlying the diagnostic efficacy of the proposed method. One4Two allows the simultaneous analysis of infertility-related genes, disease-genes of common inherited diseases, and of polymorphisms related to therapy outcome. Thus, One4Two is able to improve the diagnostic journey of infertile couples by simplifying the whole process not only for patients, but also for laboratories and reproduction specialists moving toward an even more personalized medicine.
当前，不孕夫妇的诊断路径漫长且往往效果不佳。特别是基因检测，由于其使用受限，以及评估的基因数量有限，因此成为一个限制步骤。在这种情况下，基于下一代测序（NGS）的方法的开发和普及，可同时对多个受试者的多个基因进行分析，提高了分子分析的诊断灵敏度。因此，我们开发了 One4Two，这是一种定制的 NGS 面板，旨在优化不孕夫妇的诊断流程。该面板的验证分三个步骤进行，共分析了 83 个样本。有趣的是，所有先前确定的变体都得到了确认，评估了该方法的分析灵敏度。此外，还鉴定出了导致疾病的其他潜在致病性变体，从而提高了所提出方法的诊断效果。One4Two 允许同时分析与不孕相关的基因、常见遗传病的疾病基因，以及与治疗效果相关的多态性。因此，One4Two 不仅可以为患者简化整个诊断过程，还可以为实验室和生殖专家简化流程，朝着更个性化的医疗方向发展。
