Sequencing the genomes of healthy people uncovered the presence of many more rare diseases than expected. More than three percent of the U.S. population may have a genetic condition compared to previous estimates of less than 0.02 percent, according to a study published June 4 in the American Journal of Human Genetics. The authors say this study shows that genome sequencing information can dramatically improve prediction of disease. Furthermore, they say the study demonstrates the feasibility of "iterative phenotyping." "Today, we tend to deliver medical care based on the expected response of the average patient," said National Human Genome Research Institute (NHGRI) Director Eric Green, M.D., Ph.D., in a statement. "Eventually, we want to deliver medical care based on individual genomic differences that enable more precise ways to prevent and treat disease. These findings move us closer to that reality." It is recognized that genome analysis reveals much higher levels of putative lossof- function (pLOF) than true LOF estimates (800 versus 100 variants per person). pLOFs can include nonsense, frameshift, and splice site alterations. Understanding the clinical implications of pLOF is complicated in real-life sequencing scenarios, as bioinformatics solutions are not yet capable of delivering accurate predictions of pathogenicity. Efforts […]