Clinical tests of gene sequence, structure, and function are to predict, diagnose, monitor, and prognose human disease–specific phenomes, characters severities, durations, stages, and responses to therapy. The concept and content of gene tests for clinical application mainly include chromosome/chromatins, DNA, and RNA. Structures and functions of chromosomes and chromatins vary among various durations, phases, and conditions, with the priority consideration in clinical gene tests. Sequences and functions of DNA and associated regulators are an important partial of clinical gene test. Another large group of RNA and RNA-associated factors also contribute to gene expression, regulation, and function. DNA/RNA sequencing is used to measure tumor mutation and heterogeneity, recategorize molecular phenomes and types of cancer, or guide and predict target-based therapies. The structure and function of genome dimensions and regulations as well as various factor involvement and contributions should be seriously considered in clinical gene tests, although there are a number of challenges to be overcome, e.g., method sensitivity, specificity, stability, analysis, and clinical significance. It is also critical to have the national and international standardization, guideline, and consortium of sample handling, experimental operation, quality control, data analysis, and clinical interpretation, when clinical gene tests are developed and applied for clinical application. Thus, there is an urgent need to discover and validate those gene tests according to disease phenomes, subtypes, severity, duration, phase, progression, prognosis, and response to therapy.

中文翻译：

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临床基因测试的定义。

基因序列，结构和功能的临床测试可预测，诊断，监测和预后人类疾病特有的现象，特征严重性，持续时间，阶段以及对治疗的反应。用于临床的基因检测的概念和内容主要包括染色体/染色质，DNA和RNA。染色体和染色质的结构和功能在不同的持续时间，阶段和条件之间会有所不同，在临床基因测试中应优先考虑。DNA的序列和功能以及相关的调控因子是临床基因测试的重要组成部分。另一类大的RNA和RNA相关因子也有助于基因表达，调控和功能。DNA / RNA测序用于测量肿瘤突变和异质性，重新分类分子表型和癌症类型，或指导和预测基于靶标的疗法。尽管有许多挑战需要克服，例如方法敏感性，特异性，稳定性，分析和临床等，但在临床基因测试中应认真考虑基因组尺寸和规定的结构和功能以及各种因素的参与和贡献。意义。当开发临床基因测试并将其应用于临床时，拥有样品处理，实验操作，质量控制，数据分析和临床解释的国家和国际标准化，指南和联合体也至关重要。因此，迫切需要根据疾病表型，亚型，严重性，持续时间，阶段，进展，预后和对治疗的反应来发现和验证那些基因检测。尽管有许多挑战需要克服，例如方法敏感性，特异性，稳定性，分析和临床等，但在临床基因测试中应认真考虑基因组尺寸和规定的结构和功能以及各种因素的参与和贡献。意义。当开发临床基因测试并将其应用于临床时，拥有样品处理，实验操作，质量控制，数据分析和临床解释的国家和国际标准化，指南和联合体也至关重要。因此，迫切需要根据疾病表型，亚型，严重性，持续时间，阶段，进展，预后和对治疗的反应来发现和验证那些基因检测。尽管有许多挑战需要克服，例如方法的敏感性，特异性，稳定性，分析和临床等，但在临床基因测试中应认真考虑基因组尺寸和规定的结构和功能以及各种因素的参与和贡献。意义。当开发临床基因测试并将其应用于临床时，拥有样品处理，实验操作，质量控制，数据分析和临床解释的国家和国际标准化，指南和联合体也至关重要。因此，迫切需要根据疾病表型，亚型，严重性，持续时间，阶段，进展，预后和对治疗的反应来发现和验证那些基因检测。