Chapter 1 – Molecular Diagnostics: Past, Present, and Future

Molecular diagnostics is referred to as the detection of genomic variants, aiming to facilitate detection, diagnosis, subclassification, prognosis, and monitoring response to therapy. Molecular diagnostics is the outcome of the fruitful interplay among laboratory medicine, genomics knowledge, and technology in the field of molecular genetics, especially with significant discoveries in the field of molecular genomic technologies. All these factors contribute to the identification and fine characterization of the genetic basis of inherited diseases which, in turn, is vital for the accurate provision of diagnosis. High-throughput methods, such as next-generation sequencing or genome-wide association studies, provide invaluable insights into the mechanisms of disease, and genomic biomarkers allow physicians to not only assess disease predisposition but also to design and implement accurate diagnostic methods and to individualize therapeutic treatment modalities. In this chapter, we provide an overview of the field of molecular diagnostics and of the molecular diagnostic methods that are described in the chapters that are included in this textbook.