Salon.com > Human Genome

Cheaper DNA sequencing brings privacy risks

Thu, 11 Oct 2012 20:53:00 +0000

The Presidential Commission on Bioethics warned Thursday that the rise of affordable DNA sequencing could jeopardize patient privacy. The Hill reported that the commission released a new report embracing the "promise" of whole-genome sequencing, but warning about the importance of government oversight:

Commission Chairwoman Amy Gutmann described day-to-day situations in which an individual's "most personal data" could be exploited without their knowledge. "In many states in the U.S., someone could legally pick up your discarded coffee cup and send a sample of your saliva out for sequencing to see if you show a predisposition for certain diseases," Gutmann said in a statement.

The commission's report called the potential consequences of covert testing "profound." "This information might then be misused, for example, by a contentious spouse as evidence of unfitness to parent in a custody case," the report stated. "Or, the information might be publicized by a malicious stranger or acquaintance without the individual's knowledge."

Only about half of U.S. states protect residents from covert testing, according to the commission.

The panel noted that while genome sequencing is currently very expensive, prices are dropping rapidly. With this in mind, the report recommended preemptive federal and state action to put security and privacy standards in place.

Rare form of autism might be treatable

Mon, 10 Sep 2012 15:29:00 +0000

Researchers have identified a rare, hereditary form of autism that might be treatable. The announcement came after identifiying a similar genetic mutation among six children. The children, who lack an enzyme that prevents essential amino acides from being depleted, are all of Middle Eastern descent, and each has parents who are first cousins.

Nature writes that according to the research,"Mice lacking this gene developed neurological problems related to autism that were reversed by dietary changes." Although scientists are not sure why lacking this enzyme causes autism, they have found that the mice were treated within days of receiving a diet "enriched in branched-chain amino acids."

Nature reports that although the discovery shows potential for new treatment options, it is not definitive:

“Junk” DNA holds clues to cancer, autism

Thu, 06 Sep 2012 17:53:00 +0000

When the draft of the human genome was published in 2000, researchers thought that they had obtained the secret decoder ring for the human body. Armed with the code of 3 billion basepairs of As, Ts, Cs and Gs and the 21,000 protein-coding genes, they hoped to be able to find the genetic scaffolds of life—both in sickness and in health.

But in the 12 years since then, very few diseases—almost all of them very rare—have been linked definitively to changes in the genes themselves. And large, genome-wide studies searching for genetic underpinnings for more common diseases, such as lung cancer or autism, have pointed to the nether regions of the genome between the protein-producing genes—areas that were often thought to contain“junk” DNA that was not part of the pantheon of known genes.