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February 11, 2019

One Step Closer to Precision Medicine Strategies Based on Genetic Information: ABCB1 Polymorphisms in the CHANCE Trial

Author Affiliations
  • 1Division of Neurocritical Care and Emergency Neurology, Department of Neurology, Yale School of Medicine, New Haven, Connecticut
JAMA Neurol. 2019;76(5):523-525. doi:10.1001/jamaneurol.2018.4404

The rapid pace of new discoveries in the field of population genetics is substantially changing our understanding of the pathophysiological bases of complex diseases. Until the publication of the first genome-wide association study,1 the field of medical and population genetics was focused on rare mutations that cause mendelian disorders. Since then, the combination of high-throughput genotyping technologies, innovative statistical methods, larger sample sizes, and the creation of large international collaboration networks have revolutionized the field, greatly increasing the number of genetic discoveries, the available resources, and the potential clinical applications.2 We now know that the human genome contains more than 40 million common polymorphisms that appear in 1% to 50% of the population. In this context, the identification of polymorphisms that influence physiological traits, risk of disease, and response to medications has accelerated exponentially, leading to the discovery of 87 013 unique polymorphism-to-trait associations.3 These discoveries have led to the identification of novel biological targets for drug development and promise to completely change the way that we practice medicine by allowing implementation of precision medicine approaches adapted to the genetic characteristics of each individual.

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