This is the place where I'm really hopeful that AI can help people sooner rather than later. A lot of these diagnoses just involve large-scale, complex pattern matching - the problem is that docs don't know what pattern to look for because the diagnoses are rare, and they're often not asking the right questions for the same reason. I knew someone who had an extremely rare genetic disorder (her family represents about half the people diagnosed) and just by sheer, dumb luck, her doctor happened to know the single doctor at NIH who specialized in it.

It's a really ideal use case for AI - not only figuring these things out but also doing things like clinical trial and research matching.