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D.T.C. Personal Genomics

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Guess what, we’re related! Credit: Wapondaponda 

This is a public service announcement. If you are a user of direct-to-consumer personal genomics services, please do not pay any attention to your mtDNA and Y chromosomal haplogroups. Why? Because they hardly tell you anything about your individual ancestry. What do I mean by this? Your mtDNA comes down from your mother’s-mother’s-mother’s-mother… and similarly for your Y chromosomal lineage if you are a male. These few individuals are not any more likely to contribute to your ancestry than all those multitudes and multitudes who do not contribute to your mtDNA or Y lineages; also known as almost all your ancestors! What you should pay attention to are your autosomal results. Inferences made from most of your genome. These results may be more difficult to parse, but difficulty is no sin, and elegant ease is no virtue, in this case. That’s because you are interested in your ancestry, not a convenient interpretable story.

Of course I am not saying that mtDNA and Y chromosomal haplogroups are useless. They are useful for population scale phylogeography. But please don’t make inferences about yourself from one data point. At least in most cases.

• Category: Science • Tags: D.T.C. Personal Genomics, Personal Genomics 
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After my previous post my wife started doing research online. The autosomal dominant condition that I have is almost certainly localized to one particular chromosome (there is a large effect QTL there that is strongly associated with my condition). Additionally, I inherit this condition from my mother. My daughter has her whole pedigree genotyped, thanks to 23andMe. My wife went into the Family Inheritance feature, and compared the identity by descent blocks shared between my mother and my daughter. And, it turns out that on that chromosome the only segments inherited from me, her father, come from my father. Ergo, she can not have inherited the autosomal dominant condition from my mother, since she did not inherit those alleles from her!

We are very happy right now. This is one reason I don’t really care about what the F.D.A. thinks about direct-to-consumer personal genomics. We’re talking about commodity technology. And no one is going to stand between you and your health, if you are motivated.

Addendum: With hindsight I could have figured this out myself a year ago. It just hadn’t crossed my mind.

• Category: Science • Tags: D.T.C. Personal Genomics, Personal Genomics 
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It’s Mischa Angrist and some medical geneticist M.D. offering their opinions in The Los Angeles Times. You know what Mischa is going to say, so what’s the good doc’s opinion? It’s the first and last paragraph which are really interesting to me:

The kind of regulation I would like to see on direct-to-consumer genetic tests would require the involvement of medical professionals who understand the testing information, its limitations and its applications, and who can interpret the information in a way that makes sense to each person.

At this point in time, we as a society are also sharing the burden of paying for healthcare. So when someone goes through direct-to-consumer testing and subsequently seeks expensive follow-up testing, it has an impact on the resources of society as a whole. Personal genomic testing is, therefore, not just a matter of personal freedom; its use intersects with the needs of the community.

As revealed on previous threads there are hardly any medical professionals who “understand the testing information, its limitations and its applications, and who can interpret the information in a way that makes sense to each person.” Those who might dispute this characterization can be very patronizing and contemptuous when their turf is impinged upon. Fair enough. I don’t back down from this characterization. Of the half a million physicians and surgeons in the United States very few are qualified to interpret genomics results to genuinely introduce a “value add” to their patients.

Seeing as how our medical system in the United States is scaffolded with all sorts of regulations, and by some estimates more than 50% of the money now has some government origin (Medicare, Medicaid, etc.), I accept that the reality is that talking about this in an individualistic context runs up against the structural facts that whether you like it or not many of the steps are already de facto socialized. Therefore, some democratic debate is going to occur, because the money comes out of the public kitty.

If the debate ends up on a position where these medically relevant tests must be conditional upon a professional being able to interpret them, we are simply not going to have much personal genomics at all. Right now I don’t think that dense marker genotyping is “prime time” in any case, but in a few years we’ll have full sequences as well as (hopefully) a lot more research utilizing the new data sets. If a gatekeeper is necessary to protect the public from itself there’s going to be a lot of latency because of the time which medical education and retraining will take. Additionally, I really don’t think it would be worth it for a physician or genetic counselor to devote 15 minutes to a set of results. If you are paying for these services (or the government is) you better have a very thorough job done so that there’s no error or oversight. On the other hand, if you just want a low bar of idiot-proofing, you can simply mandate informational display which is bold and clear enough that even the idiots could comprehend the details (I’m thinking use of different colors and facing).

Unlike Mischa and some of the other anti-paternalists I’m frankly not that admiring of the intelligence of the American public, or the broader world public. Most humans are good, ethical, people, but they are not good at probabilities, and there’s a lot of “irrationality” baked into the cake of their behavior. Rather, my position is that in the broader context of the need for innovation and economic growth there are only so many things we can “protect” the public from. We could, for example, enforce a healthy lifestyle on the American public by massive regulation or bans on various processed foods. We could also ban diet books, quacks, etc. There’s a lot of low hanging fruit out there, but ultimately we focus on domains where there is a clear and present danger. I assume that the anti-D.T.C. crowd think they’re “getting ahead” of an impending disaster of excessively personalized medicine. I think don’t think that that disaster is in the offing. We already have a lot of personalized medicine. Go to any bookstore and you’ll see a whole lot of advice on what you should eat, how much you exercise, etc. Then you can walk across the street and go to the supplement store. The key is not to banish personalized medicine, it is to make it better. I think D.T.C. personal genomics has that medium term promise. That promise will be realized more quickly if experimentation, innovation, and decentralized trial & error are allowed to do their work.

Razib Khan
About Razib Khan

"I have degrees in biology and biochemistry, a passion for genetics, history, and philosophy, and shrimp is my favorite food. If you want to know more, see the links at"