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.
REFERENCES
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
