WIKIPEDIA, RICHARD WHEELEROnce prohibitively expensive and laborious, whole-genome sequencing (WGS) is now edging its way into the clinic. The cost of the technique finally fell below the $1,000 mark earlier this year, heralding a future in which clinicians could routinely use it to diagnose people with unusual diseases, identify genes behind rare inherited disorders, and predict how patients might respond to treatments.
But WGS is not ready for prime time just yet, according to researchers from Stanford University. In a small pilot study, the team sequenced the full genomes of 12 adults, finding that current technologies struggle to reliably and accurately read certain parts of the genome containing important disease-related variations. And interpreting the morass of data is still time-consuming and subjective business. The team’s results were published today (March11) in JAMA.
“There’s no question in our minds that whole-genome sequencing is transformative for medicine,” said Stanford’s Euan Ashley, one of the study’s leaders. “But as real fans of the technology, we wanted to take a hard and realistic look at where we are today.”
The team sequenced 12 healthy volunteers using two different technologies—one from Illumina ...
