I’m always gratified to see my prejudices confirmed by people who are smarter and more knowledgeable than me. So a devastating critique of genomics and personalized medicine is the intellectual equivalent of having your dog stare soulfully into your eyes (while you are holding a treat). It’s just irresistible.
The paper in question, by Michael Joyner and Nigel Paneth, is short and unpaywalled, so you should just read it: Promises, promises, and precision medicine.
If you are really too busy, here are some highlights:
The prediction: “…in another 15 or 20 years, you will see a complete transformation in therapeutic medicine” This was written by Francis Collins (leader of the US genome project, now director of the NIH)–in 2000. I guess we still have another year to go.
Diseases with genetic components: “Extensive analyses of thousands of potential gene-health outcomes often fail to match … the predictive power of … family history, neighborhood, socioeconomic circumstances, or even … a tape measure and a bathroom scale”
Diagnostics “The operative question [is] whether genes add explanatory value to what we already know … gene scores add little to traditional risk prediction models.
Pharmacogenomics: “Trials of pharmacogenomic dosing of warfarin… have shown no benefit of such testing (9). By contrast, trials of a one-size-fits-all pill containing aspirin, a statin, and an antihypertensive — the very antithesis of precision medicine — for the prevention of cardiovascular disease have shown effectiveness”
Gene therapy: “The idea, expressed at the dawn of the genomic era, that gene therapy was also a possibility for the treatment of common diseases, has largely been abandoned.”
The nut:”…nearly two decades after the first predictions of dramatic success, we find no impact of the human genome project on the population’s life expectancy or any other public health measure, notwithstanding the vast resources that have been directed at genomics.”
Other than that, genomics is doing pretty well.
Here are my previous thoughts on the subject:
The emperor’s new speedos
Why genomics isn’t all that
Looking under the lamp post
Proteomics will soon eclipse genomics
Genomics keeps being not important for understanding cancer risk
An angle I’d enjoy reading from you Drew is “Why Not”. The anti hype stuff is nice but you have an intellect that could provide some insight.
Steve – I presume you mean “Why does genomics NOT contribute more to medicine?”. A lot of my thinking is laid out in the linked posts. Basically it comes down to 1) Environment is much more important and 2) The path between genetic cause and disease effect is chaotic. Just as it is hard to use weather events on one side of the world to predict weather on the other side of the world a week later, it is hard to use gene sequences to predict disease risk or prognosis. A lot of this difficulty goes back to point 1: the same gene in different environments (which most certainly includes its genetic environment) has different effects. This is why apparently robust gene effects invariably get weaker when surveyed in larger and thus more diverse populations.
We were all brainwashed in Genetics class by the elegant Beadle-and-Tatum/ Jacob-and-Monod models of easily diagrammed feedback loops between genes and gene activities. It’s natural enough to extrapolate from arginine or lactose metabolism to disease risk and progression, but it is a fallacy.