Molecular diagnostics is a holistic term used to describe a group of diagnostic tests that assess the health of individuals from a molecular level. Precisely, it is the application of scientific techniques to analyze DNA or RNA sequences with the aim of detecting, diagnosing, and sub-classifying diseases as well as generating and monitoring treatment/therapy.

Molecular diagnostics is deeply rooted in the basic study of gene expression and function. From the mid-20th century, several scientists, such as Linus Pauling, Yuet Wai Kan, Andree M. Dozy, George Gamow, Marthe Gautier, Jérôme Lejeune, Nirenberg, and others, carried out major experiments, leading to the emergence of what is now known as molecular diagnostics. A groundbreaking point was the execution of the Human Genome Project; as it identified the full set of human genes, sequenced them all, and identified some of the alleles, particularly those that can cause disease when they get mutated.

Molecular diagnostics research is focused on genomic and proteomic analysis with the goal of identifying disease biomarkers, creating better diagnostic assays, and ultimately finding new treatments and potential cures. It facilitates quick evaluation and efficient diagnosis; and has led to an important medical innovation, i.e., precision medicine (also known as personalized medicine). Precision medicine is a medical approach that tailors disease prevention and treatment, taking into account the individual’s genes, environment, and lifestyle. The goal of precision medicine is to target the right treatments to the right patients at the right time. In addition to the emergence of precision medicine, molecular diagnostics is a game-changer for clinical laboratories. It offers more powerful diagnostic tools and labor-saving systems, which enable healthcare workers to work more efficiently and facilities to generate higher revenues.

Techniques used in molecular diagnostic applications include core molecular biology methods. With the application of these techniques, the diagnosis of bacterial, viral, and parasitic diseases can be carried out using a range of different tests (singly or in combination). Molecular diagnostics tests are categorized into two broad groups: serological tests and nucleic acid-mediated tests. Serological tests generally utilize blood serum and fall into two categories: antigen-detection assays and antibody-detection assays. Both assays include the following test variants: Western blotting, enzyme-linked immunosorbent assay (ELISA) and all its derivative tests, and rapid diagnostic tests (RDTs). The nuclei acid-mediated tests utilize the nuclei acids and have the following major tests: PCR and array-based techniques, loop-mediated isothermal amplification (LAMP), Luminex xMap technology, single nucleotide polymorphism, and disease association (and all of its derivative tests).

References

1. G. P. Patrinos, P.B. Danielson, W.J. Ansorge, Chapter 1 – Molecular Diagnostics: Past, Present, and Future, Editor(s): George P. Patrinos, Molecular Diagnostics (Third Edition), Academic Press, 2017, Pages 1-11, ISBN 9780128029718, https://doi.org/10.1016/B978-0-12-802971-8.00001-8.
   

2. George P. Patrinos and Wilhelm Ansorge. Molecular Diagnostics: Past, Present, and Future – Chapter 1.
   https://booksite.elsevier.com/samplechapters/9780125466615/Sample_Chapter.pdf.
   

3. S Food and Drug Administration. Precision medicine. https://www.fda.gov/medical-devices/in-vitro-diagnostics/precision-medicine.
   

4. Patrick Gody. Molecular diagnostics is a game changer for hospital labs. https://www.mlo-online.com/home/article/13004233/molecular-diagnostics-is-a-game-changer-for-hospitalalabs.
   

5. Gupta, V., Sengupta, M., Prakash, J., Tripathy, B.C. (2017). Molecular Diagnostics. In: Basic and Applied Aspects of Biotechnology. Springer, Singapore. https://doi.org/10.1007/978-981-10-0875-7_9.