How Genomics is Changing Medical Practice

Ruth Eva Thomas


Exponential improvements in genomic technology have allowed researchers focus on the information contained in the human genome, in the hopes of applying that knowledge clinically. The field of genomics, where all of the genes of an individual are considered at once, has already begun to change the way that medicine is practiced. For instance, chromosomal microarrays are already being utilized in the diagnosis of autism spectrum disorder, development delay, intellectual disability and birth defects. By recognizing duplications and deletions which are too small to identify with traditional chromosome analysis, we are able to improve diagnostic yield for these disorders.  Whole genome sequencing has been used to diagnosis genetic illnesses, even in cases when the clinical picture or diagnosis is unclear.  Through pharmacogenomics, which can help explain how genetic variants affect drug metabolism, we will be able to decrease the staggering incidence of adverse drug reactions, as well as to guide physicians on which medications are the most appropriate for individual patients. With better understanding of how genomic changes lead to illness, the body’s response to illness and treatment, physicians will be able to practice more personalized medicine, offering more effective and safer treatment.   Genomics has already begun to impact medical care and will likely revolutionize how medicine is practiced in the near future.

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