by R.K. Chan

One of the prime reasons for justifying the massive international effort to determine the complete DNA sequence of a human being was the hope that knowledge of a person’s individual genetic composition would lead to a more individualized and effective approach to medicine. In the 10 years since the first complete human genomic DNA sequence was published, what progress has been made toward this goal of a personalized medicine based on a person’s genotype or genetic makeup?

An opportunity to assess this progress was provided by the recent “Future of Genomic Medicine IV” meeting in La Jolla, California, organized by the Scripps Translational Science Institute. To illustrate how the practice of medicine is or will be impacted by the application of genomic information, here are some highlights of the data that were presented at this year’s meeting.

In a previous blog, we discussed genetic variants in the CYP2C19 gene which affect the individual’s ability to metabolize the anti-platelet drug called clopidogrel (Plavix) to its active form. At the meeting, Dr. Matthew Price of Scripps Translational Science Institute and Scripps Clinic suggested the need for setting up a rapid point-of-care genotyping system for clopidogrel response testing for patients who have acute coronary disease that may require surgical intervention. He argued that there is a need for infrastructure and technology for bedside genotyping within hours of the cardiac event.

While such rapid point-of-care genotyping machines are still being developed, the technology is currently available for proactive genotyping of patients before they enter the emergency room; this approach gives doctors the results they need when they need it most.

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