Notes from the personal genomic inflection point

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┬áthere isn’t the market need. But there will be.

3 thoughts on “Notes from the personal genomic inflection point

  1. My concern is more security of consumer genetic information. Gene testing databases alone are a huge source of potential, which is significantly augmented when combined with self-reported family histories (cf

    If enough of my relatives have done genetic testing and have put me into their family tree maps, I don’t need to have tested myself in order for the data to have a pretty good idea of who genetically I am.

    Potentially (but not certainly), the gene testing industry will face a situation in the next few years not unlike what Facebook and other electronic data harvesters are facing now ie public outrage sparked by some form of actual or perceived abuse of the data amassed.

    I don’t think it will take the same form (eg unlikely to be allegations of FAKE GENES!). However, it could be something like governments forcing gene testing companies to hand over their results plus consumer data, effectively nationalising a genetic database.

    Governments could try to justify this to the public on the grounds of finding criminals via matching DNA evidence, health screening or a few other grounds.

    Most countries still lack genetic privacy protection laws, which leaves consumers’ only protections the confidentiality terms provided by the gene testers. Those confidentiality provisions will not override a government’s ability to force the testers to hand over data.

    Or perhaps a company like sells its database to someone who doesn’t consider themselves bound to the customer terms, such as an insurance company. Perhaps I find I start receiving targeted ads advertising medication for medical conditions I’m pre-disposed to, as someone matches my genetic data (or my parents’ genetic data) to my other online profile.

    In the case of Facebook – what seemed like acceptable voluntary sharing of personal data 5 years OK is now perceived as a problem.

    On the other hand, I really do like the knowledge which consumer genetic testing is revealing.

  2. PS If and other genetic testing companies want to preserve their **current** business, I suggest they spend their lobbying dollars on getting genetic privacy legislation drafted and passed. While this is primarily consumer protection, it should also reduce the risk of a massive loss of consumer trust in the private genetic screening industry.

    However, I suspect the longer term view of shareholders doesn’t favour that approach. A likely more viable investment strategy is to keep amassing the data while consumers are still doing their first (and likely only) tests, then, once consumer demand has dropped off, then get bought out by a medical insurance company or other acquirer who can use the data profitably (albeit likely not to the benefit of some consumers).

    While I’d really prefer that doesn’t happen, it is likely the clearest path to monetising the genetic testing business model once the market for initial consumer testing is exhausted. As an investor, you’d know that people are likely only going to pay for the service once, work out “where am I from”, then not pay again. It’s a short term growth market, but that growth can be exhausted in a few years.

    Lobbying for genetic privacy legislation would run counter to the stage 2 monetisation of the business.

    Perhaps I’m too cynical, though. Can anyone suggest a less cynical stage 2 growth plan for genetic testing sites, other than monetising data for the benefit of others?

  3. I’ll personally become more interested (outside of personally/family being admitted to a hospital) when I can buy/make a device (relatively cheaply, say around an iPhone SE @ 2018 USD) to get my own dna readout and then use that with other biomesurments as inputs for creating compounds (whose intermediate compounds I can synthesize at home with from commodity devices/resources) that I could take for various ailments/enhancements, and thus bypassing the need for many medical services and insurance (outside of those requiring surgery).

    Until then, I’m stuck playing around with ATCG strings.

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