Genetic analysis software could help pinpoint disease roots

Researchers at the University of Michigan School of Public Health have developed new software they said improves the process of genetic analysis. The research, outlined online this week in the journal Nature Genetics, holds the potential to improve disease root tracking.

The software, according to Goncalo Abecasis, the Felix E. Moore Collegiate Professor of Biostatistics at U-M, helps speed the process of identifying rare gene variants by allowing researchers to sift through large numbers of people to pinpoint genetic mutations. Abecasis, according to an announcement from the school, said that's a change from practices of the last decade, in which genetic studies focused more on common variants.

"Over the past two to three years, it has become increasingly possible to study rare genetic variation, and we developed a method that allows this to be done across studies, rather than one study at a time," Abecasis said.

Abecasis and colleagues tested use of the software by examining blood lipid levels for more than 18,500 people across seven studies. Dajiang Liu, the study's lead author, said that combining information across so many rare variants was "something that most researchers thought couldn't be done until recently."

People believe technology innovation holds the best promise for curing fatal diseases--more so than increasing the number of doctors or funding for research, according to a new survey from Intel.

The survey of 12,000 people found that most are open to virtual doctor visits and to the use of health sensors in their bodies--sometimes, even their toilets. What they want most of all, it found, is personalized care.

Still, the U.S. Food and Drug Administration last month ordered startup genetic testing company 23andMe to stop DNA tests for potential patient safety risks, saying the results may mislead customers. The FDA claims the company never submitted adequate data to support its claims and has continued to sell unapproved, unverified service for five years, despite multiple meetings and hundreds of emails with agency staff.

To learn more:
- here's the Nature Genetics abstract
- read the University of Michigan announcement

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