Molecular genomic testing or molecular diagnostics is a term applied to the collection of techniques used to analyse biological markers in the genome (an individual’s genetic code) and proteome (the set of proteins coded for by these genes) 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.This term is often confused with molecular genetic tests (or gene tests), which study structure and function of single genes or short lengths of DNA, at a molecular level, to identify variations or mutations.

Molecular genomic tests include testing methods like Next Generation Sequencing (NGS), karyotyping and microarrays. NGS technology including DNA sequencing and RNA sequencing, also known as massively parallel sequencing, is increasingly used to detect sequence variations and has provided abundant genetic markers including common and rare variants and has been applied in the analysis of clinical cancer samples including NGS-based molecular diagnosis. NGS technologies are very significant for cancer research as they provide “omics” approaches to reveal genomic, transcriptomic, and epigenomic landscapes of individual cancers. (1)

Karyotyping is a method of chromosome analysis that evaluates the number and structure of a person's chromosomes in order to detect abnormalities. Karyotyping has many clinical applications – it can be used to find out whether a chromosome defect is affecting the reproductive capabilities of a woman, or whether there is a chromosomal defect in a fetus, and if it has caused a fetus to be stillborn. It can be used to find the cause of a baby’s birth defects of disabilities, or even help determine the appropriate treatments for different types of cancer.DNA microarray technology can help analyze the expression of many genes in a single reaction quickly and in an efficient manner. Microarray technology can be used for gene discovery and, know about their functioning and expression levels under different conditions. DNA microarray can also be used for disease diagnosis to classify the different types of cancer on the basis of the patterns of gene activity in the tumor cells, and can also be used for drug discovery in the capacity of pharmacogenomics.

With respect to clinical research organizations, genomics is vital to many of the activities they carry out, such as biopharmaceutical development, drug discovery and preclinical and clinical research. Genomics acts as an amalgamation of two trends that are fundamentally changing the way research and development is conducted: industrialization of target discovery (creating higher throughputs, and increasing the quantity of data), and bioinformatics (computerized techniques for managing and analyzing those data).  The main aim of genomics and pharmacogenomics in clinical research and clinical medicine is that the disease be treated according to genetic and specific individual markers, so that medications and dosages, and overall treatment is optimized for individual patients – an approach that has the potential to revolutionize treatment.


1.  Katsanis, Sara Huston, and Nicholas Katsanis. "Molecular genetic testing and the future of clinical genomics." Nature Reviews Genetics 14.6 (2013): 415-426.

2.  Wang K, Xu C (2017) Applications of Next-Generation Sequencing in Cancer Research and Molecular Diagnosis. J Clin Med Genomics 5: 147. doi:10.4172/2472-128X.1000147

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