What does $1,000 buy you?

In the genomic sequencing world, the $1,000 genome sequence has long been discussed as a goal. Once sequencing became that inexpensive, the prevailing wisdom held, the primary barrier to widespread sequencing and clinical use would be gone.

It’s therefore startling to read an industry insider’s assertion that $1,000 will be a mere blip on the way to a price point in the low three or even two figures. That it comes from Clifford Reid, CEO of Complete Genomics, already a key player in the clinical sequencing realm, adds to its relevance.

Reid also predicts that such low price points won’t require a different technology, merely further refinement of the current prevailing ones. If he’s right, hold onto your hats, because medicine—indeed, society as a whole—will be scrambling to catch up with the breathtaking changes such a price point would bring. Reid’s takeaway message is that all the issues that would come along with widespread sequencing are not years or decades away, they’re at our doorstep.

(Update: Complete Genomics just announced that they will collaborate with Scripps on another large-scale genomic sequencing project, this time sequencing the genomes of 1,000 healthy older people to seek genetic clues to longevity.)

Reid’s thoughts were well timed, because they came on the heels of an announcement of the formation of a new sequence analysis service, called Personalis. The brain trust that analyzed Stanford Professor Stephen Quake’s genome last year is taking the lessons they learned and seeking to apply them on a larger scale. They plan to launch their first offering within a year, initially serving the research community but eventually moving into clinical interpretations of genome sequences.

Offering a clinical product will represent a significant step beyond the research analyses becoming ever more common today. At the least, it will require additional regulatory oversight and the ability to deliver analyses based on highly accurate sequences on which physicians can rely for diagnoses and treatment decisions.

Do we need an analysis service like Personalis? It’s reasonable to have doubts. After all, there are established companies like Knome already in that space, and most sequence providers also provide access to analysis and counseling services. But if Reid’s predictions are even close, having robust clinical sequence analysis capability in place within 2-3 years will be vital. The people behind Personalis are quite prominent in the academic medical and scientific fields, and it will be to everyone’s benefit if their analyses provide medical meaning to the deluge of sequence data that may well be coming to doctors’ offices everywhere soon.


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