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Does Full Genome Sequencing Really Cost $1,000 Now?

We saw in the news a few weeks ago that Veritas Genetics is offering “the world’s first whole genome sequence for less than $1,000, including interpretation and genetic counseling”. At a price of $999, it’s pretty much the $1,000 full genome sequencing service everyone has been waiting for. When we first read this news we became seriously confused. Didn’t Illumina (NASDAQ:ILMN) already announce the $1,000 genome back on January 14, 2014 when they released their HiSeq X Ten machine that can deliver “full coverage human genomes for less than $1,000”?  Then in September of last year, Veritas Genetics also made the claim that they would offer $1,000 genome testing for 5,000 members of the Human Genome Project. So what’s really behind this most recent press release about a $999 full genome sequencing offering? Let’s start with a bit of history first.

The first human genome ever to be sequenced cost $2.7 billion and was called the Human Genome Project (HGP) . The HGP was an international scientific research project which set about to identify and map all of the genes of the human genome. The project kicked off in 1990 and took 23 years to complete while incurring a cost of around $2.7 billion in 1991 dollars. It was from this project that the term “$1,000 genome” was coined and referred to the benchmark price point needed for full personal genome sequencing to become a routine and affordable healthcare procedure.

You can define the term “$1,000 genome” in two ways. The first is that full genome sequencing costs $1,000 to perform and to make a profit you would have to charge more. The second and perhaps widely understood definition from a retail consumers perspective is that anyone can have their genome sequenced for the price of $1,000 from a service provider who makes a profit from the transaction. This first definition was met by Illumina (NASDAQ:ILMN) in January 2014 when they announced their Hiseq 10:

Hiseq_10

The Hiseq 10 is a cluster of 10 HiSeq X sequencing machines that can operate over a period of 1 year performing volume sequencing which results in the price per genome sequenced to fall to $1,000. An article by Nature.com on this announcement elaborated on this “$1,000 cost” a bit more:

Flatley’s breakdown of projected HiSeq X Ten sequencing costs included the cost of reagents needed to run the machine ($797 per genome), the depreciated cost of the machine itself ($137 per genome), and the costs of paying technicians to run the machines and of preparing samples for sequencing ($55‒65 per genome). But it left out the overhead costs that academic centers must pay, such as the costs of electricity needed to run the machines.

This is why we have a fair number of companies offering full genome sequencing at a retail cost much higher than $1,000. In this article from late last year, a CNBC reporter talks about her experience of having a full genome sequencing performed by Illumina for a cost of $2,900. Illumina built the machines everyone else is using. If they can’t charge $1,000 using their own machines, it seems unlikely that others would be able to do so.

Now Veritas Genetics claims to be the first company to offer the illusive $1,000 full genome sequencing service and still make a profit on the transaction. One reason why people stood up and took notice of this announcement is because the person who co-founded Veritas Genetics, Dr. George Church, was one of the people who helped initiate the Human Genome Project back in 1984. As a Robert Winthrop Professor of Genetics at Harvard Medical School and Professor of Health Sciences and Technology at Harvard and MIT, Dr. Church has co-founded 9 different companies including ones we’ve highlighted before like Joule, Editas, and Knome.

Veritas Genetics actually first broke the $1,000 genome barrier back in September of 2015 when in collaboration with the Personal Genome Project (PGP) at Harvard Medical School, made it possible for the PGP’s 5,000 participants to have their genome sequenced by Veritas at a cost of $1,000. Now they are offering this same sequencing service at a price point of $999 and calling it myGenome which is your fully sequenced genome available on your smart phone to take with you wherever you go:

Veritas_App

Veritas Genetics isn’t the only company targeting the $1,000 genome. Another company we wrote about before, Human Longevity, wants to become the largest human genome sequencing center in the world, and bought twenty HiSeq X sequencing machines to achieve that goal with an output of nearly 40,000 genomes per year. Dr. George Church was quoted as saying he was skeptical about Veritas Genetics’ ability to deliver on this claims, and now it appears that he’s having a go at this himself.

If reading this article makes you want to go out now and get your own genome fully sequenced, you’ll have to get a doctor’s note first. You can then contact Veritas Genetics and order your test. Veritas will use a Illumina HiSeq X Ten system with an average coverage depth of 30X (that means it’s very accurate). The current turnaround time is 8-10 weeks upon receipt of a saliva sample, beginning when Veritas myGenome starts shipping at the end of March, 2016. Supplies are limited to 5,000 in 2016.

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