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High‐Throughput Sequencing in the Context of Human Genetic Diseases: Now and Tomorrow

The first description of a sequencing method by Maxam and Gilbert, and the significant improvement made by Sanger in 1977, facilitated significant discoveries in the area of molecular medicine. The big leap forward after the sequencing of the 3.2 Gb of the human genome came after 39 years by “next-generation sequencing” (NGS) or “massively parallel sequencing” methods. NGS is revolutionizing the way in which we interrogate the human genome and ask to investigative clinical questions. The applications of this technology have thus impacted almost all areas of medicine, especially in inherited diseases and oncology. NGS has also blurred the lines of research and clinical genomics to the point where many new discoveries are now facilitated through clinical laboratories. The uptake of rapid, scalable, and high-throughput sequencing approaches continues to rise, while costs continue to fall. Many clinical laboratories across the world are offering a variety of assays, ranging from sequencing of collection of targeted sites and gene panels to exome and genome sequencing. The rapid uptake of this technology has also created enormous challenges for clinical diagnostic laboratories, including assay design, selection of appropriate methods, choice