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Impatient For Precision Medicine's Impact? Look At Reproductive Health

Precision medicine is still finding its footing, caught between the excitement around its promise and the challenges of its realization, as Stat reporter Sharon Begley has just chronicled in the Boston Globe, in the context of oncology. A similar pattern of hope and disappointment was seen after the completion of the original Human Genome Project – also memorably captured by Begley in an oncology story, this one for Newsweek.

In a recent podcast, Marc Andreessen (citing economist Carlota Perez) described how technology adoption characteristically goes through just this sort of cycle, from enthusiasm to disappointment to impact. Most strikingly, though, is that the time when the technology tends to be written off by the market is often precisely the period when the new technology starts to work – though it can take the market a bit of time to figure this out.

Phrased differently, Andreessen is suggesting that if you examine a technology during the disappointment phase, you may find the seeds of its eventual success.

In the case of precision medicine, I don’t see disappointment as much as I perceive impatience, a sense that it’s time for precision medicine to “show me the impact.” (Usual disclosure/reminder: I work at DNAnexus, a cloud genomics company in Mountain View.)

This moment may be close at hand in reproductive health, where the impact of genetic testing is experienced by many couples in a decidedly non-abstract fashion.

Genetic testing is increasingly employed for carrier screening (to evaluate if both parents carry specific deleterious mutations that can result in lethal conditions such as Tay-Sachs disease) and for non-invasive prenatal testing, or NIPT (a screening test to evaluate, via a routine blood draw from a pregnant woman, whether her fetus carries certain genetic abnormalities, such as a extra chromosome). (Disclosure: some DNAnexus partners work in this space.)

By obviating the need for more...