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.

(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 )

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.

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%.