All the chromosomes of a human genome, containing about 3.2 billion DNA bases, which Veritas Genetics proposes to sequence for $999. (Wikimedia Commons: National Human Genome Research Institute)
Veritas Genetics, a company co-founded by Harvard University geneticist George Church* announced today that it will sequence your genome for less than $1,000. One dollar less, specifically. Up to now, “personal genome” services like 23andMe have used methods that don’t actually read the complete sequence of a person’s genetic code (which is what we usually mean by “genome”), but instead read short snippets of DNA sequence, or even single nucleotide “letters” scattered throughout the genome. Veritas’s myGenome service promises to provide something much closer to 100% of a 3.2-gigabase human genome sequence.
For the genetics wonks who read this fine site, myGenome specifically uses Illumina’s HiSeq X system to sequence to an average depth of 30x coverage. That means it’s not going to be identifying large structural variants — big losses, gains, or rearrangements of the DNA sequence — though it will be able to diagnose a lot of single-nucleotide polymorphisms, and smaller insertions or deletions of a few nucleotides. It also means, I think, that Veritas is getting a pretty good price on sequencing services, though the myGenome service is limited to 5,000 customers in 2016, which also suggests there’s a limit to those services. (But what a limit! 5,000 new human genomes sequenced.)
Given that the history that personal genomics has had with regulators — the U.S. Food and Drug Administration barred 23andMe from using its data to provide medical information in 2013, and only relented for a highly specific set of cases last year — Veritas’s choices of language explaining how customers might use the information available from a whole-genome sequence is interesting. The MyGenome service is available only in the U.S. (for now, I assume) and it “requires [a] doctor’s order”. The $999 package buys you not just a lot of DNA sequence data and online-accessible storage for it, but also “on-demand additional genetic counseling via video conferencing” and “Access to physicians at Massachusetts General Hospital, Dana Farber Cancer Institute, Boston Children’s Hospital, Mayo Clinic, and others for clinical opinions and clinical follow-up care.” It looks as though Veritas is aiming to mollify the FDA’s concerns by tightly linking the data it collects to medical genetics expertise from people who know exactly how complicated it is to predict health outcomes by cross-referencing a patient’s DNA sequence with association-genetics studies.
Still, that caution isn’t exactly front-and-center on the myGenome product page, which starts from the premise that “you actually come with a set of easy to read instructions.” (I mean, sure, okay, if by “easy to read” you mean “easy to read by the molecular apparatus inside every human cell, but not by the biggest and most expensive program of research in the history of biology.”) Veritas also specifically identifies “lifestyle” traits like “athleticism”, “nutrition”, “longevity/aging”, “obesity”, and “alcohol and substance abuse” as “non-clinical traits” that myGenome data will illuminate. I suspect health providers would be surprised to discover that obesity and substance abuse are “non-clinical”, and I also suspect that this “lifestyle” bin is a bid to dodge FDA scrutiny. Another eyebrow-raising line in today’s press release proposes that “fitness coaches and nutritionists” are among the health professionals who might find whole-genome sequence data useful, indicating a greater confidence both in our current power to predict phenotypes from genotypes, and in the genetic expertise of your average fitness coach, than my experience with either has given me.
Certainly, for people who don’t know their family health history, or who want confirmation of the risk that they carry large-effect recessive genetic variants, genome sequencing can provide new information that can have real medical value. Veritas is proposing to collect an entirely new class of data to those ends, and they do seem to be taking some care to ensure that data is used more responsibly than some previous personal genomics services have done — but they’re also quite willing to make promises that 3.2 gigabases of DNA sequence data can’t deliver on yet, and maybe never will.
- You may remember Dr. Church from such ambitious projects as resurrecting wooly mammoths by re-engineering Asian elephants or the personal genome-sharing site PersonalGenomes.org.
