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NETS - Genotypes

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What are genotypes?

A genotype is an individual's genetic makeup, which is stored in their DNA. DNA is packaged into 23 chromosomes, and every person has two copies of each chromosome, with one copy inherited from each parent (46 total chromosomes). Each chromosome contains certain genes that code for specific molecular processes and traits, and different versions of the same gene are called alleles. Combinations of these alleles create genotypes, and genotype determines phenotype.

Why are genotypes important in drug development?

Understanding genotypes is important in drug development because a person may have the genetic variants for a specific severe disease, but they may not show phenotypic evidence of said disease. Because of this, they would not be getting the treatment that they require, leading to potentially life threatening outcomes. An example of this dilemma would be a woman with the BRCA1/2 gene. There would be no outright, phenotypic signs of the gene's presence in the patient's genome until cancer is actually diagnosed, at which point it may be too late to save the woman. 

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