Consumer Genomics in 2018, beyond the future’s threshold

In 2013 David Mittelman and I wrote Rumors of the death of consumer genomics are greatly exaggerated. This was in the wake of the FDA controversy with 23andMe, and continuing worries about DNA and privacy. Today David and I came out with a new comment in Genome BiologyConsumer genomics will change your life, whether you get tested or not.

Really transformative technology becomes beneath comment. As long as we’re having to comment about genomics, it isn’t really mainstream. But I think in 2018 it is much clearer that the 2020s will see legitimate mainstreaming. The numbers speak for themselves. I hadn’t realized in a visceral manner how much had changed since our original comment came out. It’s pretty much an order of magnitude shift.

My hypothesis for why 23andMe plateaued for a while at ~1 million is that that was the sample size which maximized the statistical power they wanted to catch loci of particular effect sizes. In the initial years, 23andMe was not just buying customers with marketing, it was subsidizing the array costs. Today Illumina SNP arrays are well under $50 (some people say less than $25) wholesale, so I think at some point in early 2017 they realized even though 10 million wasn’t worth much to them in comparison to 1 million for GWAS, they were going to lose the luster of being “market leader” to Ancestry, who were acquiring customers at a massive clip through their marketing (my understanding is that at some point Illumina was having issues processing the samples that Ancestry was returning to them it was at such high scale; higher than Ancestry had anticipated!).

6 thoughts on “Consumer Genomics in 2018, beyond the future’s threshold

  1. Technical question: What does it mean to have low-coverage for WGS? You are reading each SNP, but only once or so?

    My price point is about $300 for WGS. I did 23andme and found out that I’m Y-DNA haplogroup T, but 23 only went 2 mutations down the tree. So now i want all the data…

  2. What does it mean to have low-coverage for WGS? You are reading each SNP, but only once or so?

    the x tells you how many times you *expect* a position to be sampled. you can go below 1x. so 0.1x refers to the fact that a position on average to be is NOT likely to be sampled, but if you have 3 billion positions, you’re going to sample a whole lot.

    30x is medical standard partly due to custom. i have heard that 20x would really suffice. basically means that a variant call is a call they are 100% sure of, and not a false positive (important in medicine).

    also, note that in sequencing you aren’t targeting SNPs. only a small subset of the positions you will be SNPs. on the order of 5-10 million SNPs in the average human genome, though on the order of 100 million SNPs across a large sample set of human genomes.

  3. Do you know if there’s similar up-to-date data available just for WGS? I think last I saw, 1-2 years ago, the estimate was around 500K. If that was accurate then we’re probably close to 1M now, and perhaps even broke it…

  4. I would very much like to be able to pay for personally actionable genetic testing results. Like “your gene X is dodgy and therefore you have a poor ability to detoxify Y, which is found in the following foods” or “you ought to eat more of these foods” or “this is how much exercise is ideal for you” or “here are the diseases that are most likely to kill you and these drugs will reduce your risks”.

    Still waiting…

  5. Do you know if there’s similar up-to-date data available just for WGS? I think last I saw, 1-2 years ago, the estimate was around 500K. If that was accurate then we’re probably close to 1M now, and perhaps even broke it…

    last i heard *medical grade* grade is in the 250K range (going by what broad and BGI has done 1st approx). the issue is god knows how much low coverage shit there is floating around? but that was a year or so ago. shit moves fast.

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