In a predictive medicine pilot, National Institutes of Health researchers studied healthy peoples 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 studys subjects indeed had the disease.
We were surprised that this many individuals had positive findings in a group of individuals that is basically healthy, said Jennifer Johnston, lead author of the study published in the American Journal of Human Genetics and staff scientist with the Clinical Genetics Section of the Medical Genomics and Metabolic Genetics Branch (MGMGB) at the National Human Genome Research Institute (NHGRI).
According to Leslie G. Biesecker, M.D., chief of the MGMGB at NHGRI and corresponding author of the study, researchers achieved about a 50 percent accuracy of predicting disease in people not knowing anything about their health status beforehand, changing the odds of these patients having one of these diseases from about 1 in 50,000 to 1 in 2. These results show that you can dramatically improve your predictions based on genome sequence information.
Consequently, researchers conclude that about 9 million Americans may be living with some sort of genetic condition. However, researchers caution that not all healthy people need to have their genomes sequenced, emphasizing that this was just a proof-of-concept study.
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