Little doubt remains about the importance of genetics and genomics in clinical medicine!

Our human genomic encodes all of the organelles necessary for normal cellular function. Variation in a standard (Unaltered) DNA sequence can therefore impact the normal functioning of cells and organs and contributes to the inter-individual variability for a wide range of physical characteristics to be expended across processes and functions.

There are three broad categories of genetic variation:

DNA sequence variation

Structural (cytogenetic) variation

Epigenetic variation

 Besides the importance of Single nucleotide polymorphisms (SNPs) muttons such as Nonsense mutation, Missense mutation, Splice site mutation, Silent mutation, Regulatory polymorphism, Indels: Insertions and deletions, Triplet-repeat expansion, structural abnormalities such as “Copy number variation” or “Chromosome translocations and inversions” also seem to have a large effect in this process of genetics role in diseases.

Epigenetic variation, which refers to modifications of DNA or chromatin (the DNA-packaging proteins) that do not directly alter the DNA sequence. These forms of variation can have dramatic effects on protein expression, holds a direct link between the Diet and Nutrition.

The role of Genetic testing in modern clinical medicine includes, but is not limited to, Perinatal screening, Carrier testing, Diagnostic testing and Pharmacogenetics with a promising future amidst options such as Direct-To-Consumer (DTC) marketing of genetic testing, currently available through several private companies.


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