Comas Iñaki, Gil Ana
Unidad de Genómica de la Tuberculosis, Instituto de Biomedicina de Valencia, Consejo Superior de Investigaciones Científicas, Valencia, España; Unidad de Genómica de Tuberculosis, Fundación para el Fomento de la Investigación Sanitaria y Biomédica de la Comunidad Valenciana (FISABIO), Valencia, España; CIBER (Centro de Investigación Biomédica en Red) en Epidemiología y Salud Pública, Instituto de Salud Carlos III, Madrid, España.
Servicio de Microbiología, Hospital Universitario La Fe, Valencia, España.
Enferm Infecc Microbiol Clin. 2016 Jul;34 Suppl 3:32-9. doi: 10.1016/S0213-005X(16)30217-8.
Tuberculosis (TB) has overtaken HIV (human immunodeficiency virus) and malaria as the leading cause of death by an infectious disease worldwide. The reduction in the TB incidence is a modest 2% of cases per year, thus we will need 200 years to eradicate the disease. Part of the problem is that TB control tools are decades old and cannot anymore contribute to accelerate eradication of TB. New diagnostics, treatments and vaccines are urgently needed. Next generation sequencing has the potential to become one of these new tools. Genomic characterization of TB isolates is already showing its potential for epidemiology and diagnostics, particularly to identify drug resistance mutations. However, the experimental and bioinformatics skills needed are still far from being standardized and are not easy to incorporate as a routine in clinical laboratories. In this review we will describe current next generation sequencing approaches applied to the Mycobacterium tuberculosis complex, their contribution to the diagnostics and epidemiology of the disease and the efforts that are being undertaken to make the technology accessible to public health and clinical microbiology laboratories.
结核病已超过艾滋病病毒（HIV）和疟疾，成为全球传染病致死的首要原因。结核病发病率每年仅适度下降2%，因此我们需要200年才能根除该疾病。部分问题在于，结核病控制工具已沿用数十年，无法再推动结核病的加速根除。迫切需要新型诊断方法、治疗手段和疫苗。新一代测序技术有潜力成为这些新工具之一。结核分枝杆菌分离株的基因组特征已显示出其在流行病学和诊断方面的潜力，尤其是在识别耐药突变方面。然而，所需的实验和生物信息学技能仍远未标准化，且不易纳入临床实验室的常规操作。在本综述中，我们将描述目前应用于结核分枝杆菌复合群的新一代测序方法、它们对该疾病诊断和流行病学的贡献，以及为使该技术能为公共卫生和临床微生物学实验室所用而正在做出的努力。
