A very long piece on the “personal genomics industry.” Lots of quotes from my boss Spencer Wells, since he has been in the game so long.

The piece covers all the bases. I actually think some of the criticisms of direct-to-consumer genetics are on base. I just don’t think they’re insoluble problems, or problems so large that that should discourage the industry from growing. I think part of the problem is that many of the people journalists can talk to who can comment on the industry are based in academia, and academia has a different focus when it comes to comes to genetics than the nascent industry. For rational reasons academics need to be very careful when it comes to ethics. Consumer products I think are somewhat different.

But I do think we need to reflect how far we’ve come in 10 years. Back in the 2000s when I was reading stuff on Y, mtDNA and autosomal studies, I honestly didn’t imagine that I would know my own haplogroups and genome-wide ancestry decomposition. It seemed like science fiction. That all changed rather rapidly over a few years, and I purchased kits in the early years when the price was still high. Today it’s a mass industry, with a sub-$100 price point in many cases.

Yes, there are plenty of cautions and worries we need to consider. But the future is already the present, and the horse has left the stable.

There’s a debate that periodically crops up online about the utility, viability, and morality of returning results from genetic tests to consumers. Consumers here means people like you or me. Pretty much everyone.

If you want to caricature two stylized camps, there are information maximalists who proclaim a utopia now, where people can find out so much about themselves through their genome. And then there are information elitists, who emphasize that the public can’t handle the truth. Or, more accurately, that throwing information without context and interpretation from someone who knows better is not just useless, it’s dangerous.

Of course, most people will stake out more nuanced complex positions. That’s not the point. Here is my bottom-line, which I’ve probably held since about ~2010:

1. The value for most people in actionable information in direct-to-consumer genetics is probably not there yet when set against the cost.
2. With the reduction in the cost of genotyping and sequencing, there’s no way that we have enough trained professionals to handle the surfeit of information. And there will really be no way in 10 years when a large proportion of the American population will be sequenced.

At some point, the cost will come down enough, and the science probably is strong enough, that direct-to-consumer genetics moves away from novelty and early adopters to the mass market. At that point, we need to be able to make the best use of that data. Genetic counselors, geneticists, and doctors all cost a fair amount of money and have a finite amount of labor supply to provide to the public. They need to focus on serious, complex, and consequential cases.

To some extent, we need to reduce much of interpretation in the personal genomics space to an information technology problem. For example, if someone’s genotype pulls out a bunch of statistically significant hits of interest the tool should automatically condition significance on that individual’s genetic background.

Yes, there are primitive forms of these sorts of tools out there already. But they’re not good enough. And that’s because there isn’t the market need. But there will be.

In case you were sleeping under a rock, 23andMe got FDA approval for DTC testing of markers related to BRCA risk. Obviously, this is a pretty big step, in principle.

But the short-term implications are not that earth-shaking.

From the FDA release:

The three BRCA1/BRCA2 hereditary mutations detected by the test are present in about 2 percent of Ashkenazi Jewish women, according to a National Cancer Institute study, but rarely occur (0 percent to 0.1 percent) in other ethnic populations. All individuals, whether they are of Ashkenazi Jewish descent or not, may have other mutations in BRCA1 or BRCA2 genes, or other cancer-related gene mutations that are not detected by this test. For this reason, a negative test result could still mean that a person has an increased risk of cancer due to gene mutations….

Apparently, women with one of these variants have a 45-85% chance of developing breast cancer by age 70. So the penetrance is high.

It seems that you’ll know if this sort of test is going to have utility for you based on family history.

The big thing is the transition to DTC. This will increase availability and drive the price down. That’s probably going to mean more work for those engaged in interpretation and education. False positives are going to start being a major thing….