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Comment by phyzome | Hacker News Reader

I'd be very wary of this. Very few medical conditions have any kind of strong and simple link to known genes or gene networks.

"This gene combo has a 10% chance of mortality due to cardiac causes" doesn't tell you much about one person who died suddenly. There are a lot of people with those genes who didn't die suddenly of that thing, or did but of something else.

So at best you're working with a sort of a shrug in a certain direction.

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While I agree that you want to be wary of any particular claims, and more study is warranted to establish the effectiveness of any particular intervention based on data, there’s a Bayesian justification to looking at otherwise unexplained deaths. “When you have eliminated the impossible, all that remains, no matter how improbable, must be the truth.”

And what about when "all that remains" is 47 different possibilities? That's not a very satisfying truth.

You have to start the process of elimination somewhere. Sometimes that process involves multiple steps.

My maternal great-grandfather, maternal uncle, and mother all had burst brain aneurysms; my mother fortunately survived hers. Her sister had a blood-vessel abnormality in her brain related to a benign tumor.

Whether the genes / gene networks are known or not, it seems very obvious that there's something hereditary going on there.

In one of the cases in the article, the 15-year-old who died had scarring in his heart and a blood relative who already had a heart implant related to arrythmias. They confirmed he had genes related to this issue as well. Seems pretty open-and-shut.

My favorite theory on genes is the omnigenic model. In that model, EVERY gene expressed in a cell affects the other ones. It seems to explain for me why we have such trouble converting genetic testing results to actionable outcomes. Since humans have 20,000-25,000 genes, the different permutations of that possible and interacting are staggering.

https://en.wikipedia.org/wiki/Omnigenic_model

I think channelopathies are an exception to that general rule, so it would depend how specific the issue is that they're identifying.

Yes, some channelopathies are simple Mendelian traits, i.e. just one variant is explaining most of the phenotype variability.

Even if this particular research doesn't lead to any life expectancy improvements directly, it can still further our understanding of the mechanisms involved, and possibly lead to effective interventions when coupled with future studies.

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