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DNA sequencing shows volunteers aren't so healthy as they appeared to be

A team at the National Institutes of Health (NIH) set out to study a few years ago the DNA of 1000 healthy volunteers after checking blood tests, echo-cardiograms, self-reported symptoms and any aspect a doctor would usually check. After passing successfully these tests, the scientists looked at their genomes.

The results weren't what they expected. In studying theirs DNA's, the researchers detected that more than 100 of volunteers had mutations that made them more susceptible to develop cancer, kidney disease or even other conditions related with skin tumors. After analyzing these subjects deeply, they verified that 34 of them or their family members had been living with the disease the mutation pinpointed but without having knowledge this was the case. All of the volunteers in the study were adults 45 to 65 years, an age when many genetic conditions are already obvious.

As DNA testing becomes more common, these findings could redefine the concept of healthy. Previous studies marked as the 0.02 percent the number of people with a genetic condition. With this new study published in the American Journal of Human Genetics, it's indicated that the number may be 3 percent or more.

Equally interesting as the datum of the 3 percent of volunteers had mutations and diseases they didn't know about, the scientists discovered that 3 percent of volunteers had mutations but no sign of disease.

Leslie Biesecker, chief of the medical genomics branch at the National Human Genome Research Institute said that in the future people will sequence their genomes in an early age. “It will become part of routine health care. In most cases, genes pinpoint a susceptibility so it will be a clue for doctors and patients about what you should look for and how to stop it.”


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