In a predictive medicine pilot, National Institutes of Health researchers studied healthy people’s DNA instead of trying to find a mutation in the genomic sequence of those with a genetic disease, finding that 3 percent or more of the U.S. population may have a rare genetic condition compared to previous estimates of less than 0.02 percent.

Analyzing data from almost 1,000 volunteers to find “putative” (presumed) mutations that would almost certainly lead to a genetic condition, NIH researchers discovered that about 100 had genomic variants predicting that they would have a rare disease. And, when researchers went back and meticulously evaluated the volunteers in customized work-ups or “iterative phenotyping,” they found that nearly half of the study’s subjects indeed had the disease.

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