Eric Topol November 13, 2022
When both cost and time to get data plummet
So much attention has been placed on the cost of whole genome sequencing (WGS) over the years, from about $300 million for the first one in 2000 (some estimates are as high as $3 billion), to now starting to approach $100. That’s a long sought and remarkable reduction in cost. But what is equally impressive is that a team at the University of Washington, led by Danny Miller, set a world record in September 2022, reducing the time from sample (at birth of a baby) to interpretation to 3 hours! That diagnosis (of lacking the pathogenic gene variant of concern) in a newborn was facilitated by knowledge of familial risk. Nevertheless,...
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