[jiggawatts]

Many genes are highly conserved or consistent enough. E.g.: if there's a 1% difference between two people, then it's a bit like two very unique sentences that have a couple of small typos. They're sill recognisable, and it's also still pretty obvious that they're the "same".

A gene sequence allows researchers to determine the amino acids that are coded for, and from those, which proteins match which genes.

This can be matched up with genetic diseases. If you know that damage to a certain location in a chromosome causes a problem with a certain biological process, then ergo, the associated protein is needed for that process!

So: genetic illness -> gene sequence -> protein -> role in the body

Without sequencing, that chain can't be built.

[dclowd9901]

But you can only know that by having a large sample of very “stable” (have few genetic irregularities) gene samples compared to a large pool of samples from people with very narrow and pronounced gene irregularities, right?

Is this why it’s so hard? This feels more like a healthcare records keeping people and less like an “actually reading the data problem”.

I can’t help but feel like some form of single payer healthcare is truly the way out of this problem. One where all disease record keeping is uniform and complete.

[Earw0rm]

Single payer healthcare here (UK) is still subject to privacy controls in a way which would make it very difficult to do that.

(Also our health system's IT is a hellscape, but one reason for that is that people would literally rather not have a working system at all, than one with less than impeccable privacy controls.

Personally I'd gladly sacrifice a fair bit of medical privacy in return for giving scientists greater insight into disease processes, but the average citizen here wants advanced healthcare without giving their data to research scientists. /facepalm )

[spookie]

I trust the scientists, the problem isn't them. Look at the whole abortion data scandal in the U.S.

[Earw0rm]

The problem there is the US' insane theocrat-conservatives (or just misogynist assholes hiding behind a thin veneer of religious justification, as the case may be).

I'm not saying a health IT system should have no privacy controls either. But the requirements for such controls need to be balanced against having a system that actually works, and that means having some people who actually understand the tech, and the workings of hospitals, having a role in requirements conversations. Instead it was dominated by MPs, "patient advocacy" groups and privacy campaigners, none of whom know or care anything about how to build a workable system.

[hwillis]

> But you can only know that by having a large sample of very “stable” (have few genetic irregularities) gene samples compared to a large pool of samples from people with very narrow and pronounced gene irregularities, right?

No- A "gene" isn't an A/G/C/T- it's a sequence of 1000-1000000 base pairs. Each gene has a well-defined start/stop sequence called a start/stop codon. When people have genetic differences, one (an SNP- single nucleotide polymorph) of the tens of thousands of base pairs in that gene is different. Even for genes that are entirely "missing" in some people, they're really just different in a way that makes them nonfunctional.

Does that make it obvious how sequencing all those genes is useful, even if everyone has different genes? It tells us 99.999% of how proteins are coded, even if individual variation is the other .001%.