Molecular diagnostics

Molecular diagnostics is a collection of techniques used to analyse biological markers in the genome and proteome—the individual's genetic code and how their cells express their genes as proteins—by applying molecular biology to medical testing. The technique is used to diagnose and monitor disease, detect risk, and decide which therapies will work best for individual patients.

By analysing the specifics of the patient and their disease, molecular diagnostics offers the prospect of personalised medicine.

These tests are useful in a range of medical specialisms, including infectious disease, oncology, human leucocyte antigen typing (which investigates and predicts immune function), coagulation, and pharmacogenomics—the genetic prediction of which drugs will work best. They overlap with clinical chemistry (medical tests on bodily fluids).

The field of molecular biology grew in the late twentieth century, as did its clinical application. In 1980, Yuet Wai Kan et al. suggested a prenatal genetic test for Thalassemia that did not rely upon DNA sequencing—then in its infancy—but on restriction enzymes that cut DNA where they recognised specific short sequences, creating different lengths of DNA strand depending on which allele (genetic variation) the fetus possessed. In the 1980s, the phrase was used in the names of companies such as Molecular Diagnostics Incorporated and Bethseda Research Laboraties Molecular Diagnostics.

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