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.
Keywords: Chromosome; DNA; Gene; RNA; Sequencing.