How Genomics is Changing Medical Practice

Ruth Thomas, Shelin Adam, Lesley Phillips, Marion Thomas


Exponential improvements in genomic technology allows researchers to focus on the information contained in the human genome, in the hope of applying that knowledge clinically. The field of genomics, where all of an individual’s genes are considered at once, has already begun to change medical practice. For instance, chromosomal microarrays are already being utilized to diagnose 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, and guide physicians in medication choice for individual patients. With a better understanding of the relationship between genomic compositions, susceptibility to illness and treatment options, 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.

KEYWORDS: genomics; personalized medicine; pharmacogenomics; chromosomal microarray; whole genome sequencing

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Thomas R, Adam S, Phillips L, Thomas M. How Genomics is Changing Medical Practice. UBCMJ. 2012 4(1):15-17.