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 leukocyte antigen typing (which investigates and predicts immune function), coagulation, and pharmacogenomics—the genetic prediction of which drugs will work best.(v-vii) They overlap with clinical chemistry (medical tests on bodily fluids).