Whole-genome sequencing may not identify genes most likely linked to inherited disease. The AP (3/12, Tanner) reports that according to research published March 12 in the Journal of the American Medical Association, “looking for disease risks” by sequencing an individual’s whole genome appears not to be ready for wide use, given the state of current technology. The study revealed that genetic variants with the greatest likelihood of being tied to “significant disease were the least likely to be accurately identified.” The San Francisco Chronicle (3/12, Lee) reports that for the study, researchers “analyzed the whole genomes of 12 healthy people with sequencing platforms by Complete Genomics in Mountain View and Illumina in San Diego.” The study found that “the machines...failed to detect a sizable percentage of genes linked to inherited diseases.” What’s more, “professional genetic counselors or informatics specialists needed to study the genome up to 100 hours to provide accurate and meaningful information to patients.” Given those particular problems and the fact that sequencing and analyzing a genome costs approximately $17,000, the study authors concluded that the technology is not yet accurate, reliable or useful enough for mass utilization. Also covering the story are Reuters (3/12, Seaman), the NPR (3/12, Shute) “Shots” blog, HealthDay (3/12, Norton), Medscape (3/12, Lewis), and Modern Healthcare (3/12, Lee, Subscription Publication). Pilot project to make whole genome sequencing available to some non-research patients. The San Francisco Chronicle (3/12, Allday) reports that in a pilot project, Stanford researchers “are planning to comb through the complete genetic makeup of 100 people with unexplained hereditary conditions or ‘mystery’ diseases, hoping for answers that have been long-elusive for some patients and may even guide treatment.” In any case, according to investigators, “the in-depth analyses will contribute to broader understanding of the complex ties between DNA and health.” According to the Chronicle, the project “marks the first time Stanford has made whole genome sequencing – a process that unveils a person’s complete DNA map – available to patients outside of a research setting.”
Posted on: Wed, 12 Mar 2014 14:06:29 +0000