摘要随着精准医学概念的提出,涉及肿瘤靶向治疗、药物基因组学、出生缺陷等的基因检测在医学实验室普遍开展,下一代测序技术、数字PCR技术也得到及时应用,临床医疗决策对分子诊断的依赖度高,对分子检测结果准确性的要求也达到空前的高度.然而随着分子诊断技术不断发展及行业快速扩张,分子诊断的质量问题也随之凸显,其质量管理也面临新的挑战,值得医学实验室及监管部门重视.

abstractsGene detection related to tumor targeted therapy, pharmacogenomics, birth defects area is now widely used in clinical laboratories with the introduction of"precision medicine"concept.As next-generation-sequencing and digital PCR technology get to clinical application quickly, clinical medical decision is highly dependent on molecular diagnosis test results, therefore, the requirements for tests accuracy is unprecedented.However,the continuous development and fast expansion of molecular diagnosis technology brings outstanding quality problems.Its quality management also faces new challenges, which deserve the attention of medical laboratories and regulation bureaus.