About Molecular Diagnostics

What is Molecular Diagnostics?

Molecular Diagnostics refers to in vitro diagnostic techniques based on detecting relevant biological markers. The most commonly used biological markers are DNA and RNA. Molecular tests can be used to determine germline genetic alterations that predispose individuals to certain diseases. This type of test normally only needs to be performed once in life. Molecular tests can also be used to determine an individual’s exposure to environmental assaults, including viral or bacterial infections and somatic mutations. This type of test is performed repeatedly. Two main techniques used in molecular diagnostics are polymerase chain reaction (PCR) and DNA sequencing. Molecular tests can be either qualitative or quantitative depending on the clinical application. Clinical molecular tests are regulated either by the Federal Drug Administration (FDA approved/cleared) or by the Clinical Laboratory Improvement Act (CLIA) (Laboratory developed tests).

advantages of molecular diagnostics

  • Sensitivity: Molecular tests include an amplification step, which significantly increases the sensitivity compared to traditional diagnostic tests, enabling the detection of target molecules present at very low concentration
  • Specificity: Properly designed molecular tests can distinguish target molecules with very few nucleotides differences, therefore minimize potentially false positive results.
  • Turn around time: Molecular tests offer shorter turn around time compared to traditional culture-based methods for pathogens identification.
  • Early Detection: Molecular tests can detect infections at earlier stages compared to traditional serological tests, enabling earlier intervention, consequently better outcome.
  • Precision Medicine: Molecular tests allow more precise clinical management of patients to achieve personalized medicine.

current applications of molecular diagnostics in medical fields

Molecular tests can be used in much broader applications compared to traditional diagnostic tests, including infectious disease detection, genetic testing, pharmacology, cancer diagnosis and prognosis, and therapy selection and monitoring.

    • Molecular tests are used to detect various infections (viral or bacterial), offering high sensitivity and specificity and fast turn-around time.
    • Molecular tests can be used to identify genetic mutations associated with hereditary types of cancer.
    • Molecular tests are used in pharmacogenomics to optimize drug therapy, maximize efficacy and minimize adverse effects.
    • Molecular tests are used in oncology to select targeted therapies for cancer patients as well as to monitor treatment response.