Whole-genome sequencing may soon become clinically useful.

Two newly published papers may reignite the once-"disappointing" search for the "genetic roots of major killers like heart disease, diabetes, and Alzheimer's." In the seven or so years "since first full genetic code of a human was sequenced for some $500 million, less than a dozen genomes had been decoded, all of healthy people." Now, researchers at Baylor College and the Institute for Systems Biology were able to demonstrate that it is "possible to sequence the entire genome of a patient at reasonable cost and with sufficient accuracy to be of practical use to medical researchers."

        

What makes the technology even more impressive, she said, is that these were whole genomes of people that provided 'very interesting stories about rare diseases.'" 

        University of Utah researchers, "used gene sequencing technology to take a closer look at a "four-member family. After completing and comparing the genomes, investigators were able to tell that the "two parents passed recessive genes to their two children, each of whom had a condition called Miller Syndrome that may cause cleft palates, misshapen ears, and short stature." According to the paper in Science, the children also had "a lung disorder called primary ciliary dyskinesia that can lead to pneumonia, bronchitis and other respiratory infections." 

        Indeed, "experts have long known that Miller syndrome is genetic."But they had never been able to pinpoint the gene." Having the entire family's genomes in their hands, however, "helped shrink the genetic haystack from thousands of genes to four likely targets," and investigators were also able to calculate the odds of inheriting the variants.

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