Abstract

How will you respond when a patient asks, “Doctor, what can I do to prevent myself from going blind from glaucoma like mom?”. There is optimism that genetic profiling will help target patients to individualized treatments based on validated disease risk alleles, validated pharmacogenetic markers and behavioral modification. Personalized medicine will become a reality through identification of disease and pharmacogenetic markers, followed by careful study of how to employ this information in order to improve treatment outcomes. With advances in genomic technologies, research has shifted from the simple monogenic disease model to a complex multigenic and environmental disease model to answer these questions. Our challenges lie in developing risk models that incorporate gene–gene interactions, gene copy-number variations, environmental interactions, treatment effects and clinical covariates.

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