Determining the precise molecular structure of DNA was not only the launching point of what would become the field of modern molecular biology, but it also led scientists to avant-garde thinking about how to detect and ultimately treat disease. These novel concepts would quickly develop into a clinical reality that has been deeply ingrained in elucidating the underlying mechanisms regulating gene and protein expression, in concordance with the overall function of these biomolecules for normal and pathological states.
Molecular diagnostics began as reagents and methodology to identify genetic markers that, research groups postulated, controlled various diseases. For instance, as early as 1949, Linus Pauling and his colleagues had already introduced the term “molecular disease” into the scientific lexicon to describe the changes they observed—that a single amino acid substitution was responsible for molecular changes in hemoglobin leading to sickle cell disease. This arguably constitutes the earliest example of molecular diagnostic development, which set the framework for the field to explode about 30 years later, when researchers performed the first prenatal genetic test for Thalassemia. The scientists utilized a newly developed method called restriction fragment length polymorphism (RFLP), to hunt down the mutant allele from fetal fibroblast cells.
Soon after the use of this genetic test to predict disease, the burgeoning discipline of molecular biology blossomed into a full-on technological boom—much of which can be attributed to the game-changing DNA amplification technique, PCR that was first detailed in the literature in 1985. Two years later PerkinElmer launched its first PCR thermocycler, a ubiquitous piece of equipment essential to every molecular biology laboratory, and with that, the molecular diagnostic equipment market set off down a path that is still on the rise and shows no sign of slowing down.
Now, in the post-genomic era, molecular diagnostics have not only aided scientists toward a better understanding of how our genetic code operates to coordinate daily metabolic functions, but are also becoming essential clinical tools that physicians use to identify, diagnose, and track disease. However, the foray of clinical diagnostics into genomic medicine is not as straightforward as it was adapting them to the laboratory environment.
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