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The genomics revolution and the rise of the “molecular stethoscope”

ATCGBack in 2012, Stanford bioengineer Stephan Quake, PhD, and colleagues sequenced the genome of a fetus using only a maternal blood sample for the first time. Technology Review later recognized the work as one of the “10 Breakthrough Technologies 2013.”

In a recently published opinion piece (subscription required) in the Wall Street Journal, Quake and Eric Topol, MD, a professor of genomics at the Scripps Research Institute, discuss the method and how it exemplifies the potential of the genomics revolution to provide scientists and clinicians with a new type of stethoscope that allows one to see "inside the body at the molecular level." They write:

The prenatal molecular stethoscope is the first truly widespread clinical application to result from the human-genome project. The National Institutes of Health has an opportunity to build on this new knowledge of “alien” DNA in healthy individuals, and determine whether it may change their clinical course—the molecular-stethoscope approach. Meanwhile, whole genome sequencing of the germ-line, or native, DNA from populations is under way, with seven ongoing world-wide projects, each sequencing the native DNA from 100,000 or more individuals. It’s projected that nearly two million people will be sequenced by 2017.

Already, the scientific literature is brimming with new applications of the molecular stethoscope. Two studies in the New England Journal of Medicine in December showed that more than 10% of healthy people over age 65 carried so-called somatic mutations in their blood cells, and that these individuals had more than a tenfold increased risk of subsequently developing a blood-based cancer.

Previously: Stanford-developed eye implant could work with smartphone to improve glaucoma treatmentsA simple blood test may unearth the earliest signs of heart transplant rejection and Step away from the DNA? Circulating *RNA* in blood gives dynamic information about pregnancy, health
Photo by Stefano

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