Before publishing their results, the investigators plan to sequence other families, select the genes that seem most important, and then sequence those genes. “Any time you have a new finding you just have to be very careful about it to make sure that it holds up,” said Dr. Broderick. He added that the remaining steps are likely to take between six months and one year.
Although whole exome sequencing shows potential to one day be part of a standard of practice, for now “it’s a research method tool only,” concluded Dr. Broderick. “This is the first step,” he said, “but we think it’s exciting. It’s getting closer to personalized medicine.”
—Lauren LeBano
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