February 23, 2018 – Rabiya S. Tuma, PhD (Medscape)

Researchers completed the first draft of the human genome sequence almost 20 years ago. The multiyear project cost $2.7 billion dollars, with sequencing cost making up at least $500 million of that bill. This year, an international research team reported that they completed the human genome sequence using handheld nanopore devices in about 2 months at a cost of around $30,000.

The small sequencing devices have been used previously to track the Ebola and Zika epidemics, but the human genome is many orders of magnitude larger than those bacterial and viral genomes, making this “a huge technical achievement,” Benedict Paten, PhD, one of the collaborators in the latest sequencing effort, told Medscape Medical News.

“We were able to generate enough data to put together a human genome assembly that was in many respects superior to that initial draft,” continued Paten, who currently oversees the Center for Big Data in Translational Genomics and is an assistant professor in the Department of Biomolecular Engineering at the University of California, Santa Cruz. “Not in all respects — let me be clear, there are some rough edges — but in many respects superior to the original draft. So that, just as a technical achievement, is quite amazing.”

Eric Topol, MD, founder and director of the Scripps Translational Science Institute in La Jolla, California, seconds that statement, noting that many people thought it would take years before the human genome sequence could be assembled inexpensively from small machines.

The portability and low cost will be important for translation to patient care, continues Topol, who is also editor-in-chief of Medscape. “It opens up opportunities in patient care. It takes genomics all over the world, to less developed countries. There are undiagnosed diseases all around the word that would be demystified with this.

“Also, if we can read a genome, we can read a cancer genome and maybe see how best to treat it,” he continued enthusiastically.

“Or for sick newborns, if we could sequence and get results quickly, it could be a big advantage,” Topol said. Speeding test results for inborn genetic defects would reduce the risk for lasting damage for affected infants.

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