Opinion: Genomics in the Clinic

Next-generation sequencing diagnostics are already being used, and patients are ready.

Written byRichard Resnick
| 3 min read

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FLICKR, ALEX PROIMOSWhen will whole human genome sequencing hit the long-sought-after $1,000 mark? How will scientists bear the interpretation challenges? Can a patient be trusted with their own genomic data?

As the din of debate on the utility, price, and ethics of human genomics grows louder, the techniques are already being incorporated into everyday routine operations in health care. Clinical genetics labs—which continue to make next-generation sequencing (NGS) technologies higher throughput and more accurate for a lower cost—have already launched a first foray of lab-developed tests that use genomics data to diagnose a variety of diseases. Labs estimate cost savings of 10 to 50 times over complex genetic tests, with turn-around times of days and weeks rather than weeks and months.

In the NGS world, everyone marvels at the dramatic fall in sequencing costs: it is 100 million times cheaper than it was only 10 years ago when the human genome project was just wrapping ...

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