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In this era of plummeting DNA sequencing costs, we frequently hear the claim that soon everyone should have their whole genome sequenced. However, two implicit assumptions underlie such claims: that whole-genome sequencing (WGS) will be (1) sufficiently cheap and (2) sufficiently useful to drive near-universal uptake. But as is often heard in the personal finance industry, “an elephant for a nickel is only a bargain if you have a nickel and you need an elephant.”
Let’s examine the first half of that proposition: cost. The price tag for WGS has indeed become much smaller, with technological advances dropping the up-front cost to near $1,000. But medical costs are tricky. No matter how inexpensive a medical test, downstream costs can be substantial, such as those generated by inevitable false positives, which require expensive (and potentially harmful) follow-up investigation. In an era of constrained costs, informed practice argues strongly against the indiscriminate application of a test such as WGS, for which we have only begun to gain a...