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Wednesday, March 26, 2014

$1000 Will Buy You Your Whole DNA Genome, But Won't Answer Your Questions

From the first illustrious sequencing of human DNA to the current ability to give anyone their DNA genome for $1000, has been a story of an amazing technology that cannot yet give us complete answers to what Shakespeare once said, "the fault ....is not what lies in our stars, but in ourselves" . And to find the extent to which our health 'lies in our genes'. To that end there has been a project at Stanford University Medical School to be able to sequence the whole genome in an individual patient to check for genetic diseases when someone is ill. This sort of testing has significant flaws, and a cautionary tale for those trying to use this technology to further their health. A genetic disease currently is defined as "ACMG-reportable" if the American College of Medical Genetics and Genomics says that the gene sequence, in simplistic terms,  is known to cause inherited disease in the population. The Stanford group has been testing small groups of patients and attempting to establish the framework of application strategies and ethics for us. Most studies have only very small numbers of patients, so the numbers of genetic diseases that are treatable that have been found by whole sequence searching is very small. The issue is that in some studies close to a fifth of genetic diseases are not found, either because we don't find the gene abnormality, or because we don't fully understand what all the genes mean. Humans have gene breaks or changes that are clinically unimportant, and finding out about these gene deficiencies can be a challenge for a patient and their health care providers as well. And then the final frontier: 'fixing the genes' is a whole other discussion. For who is to say what is broken?

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