DSeid: This strays from the OP, but it is a subject in which I am really interested (and I am interested in devoting much of my life to working on it).
I think that we are not really far apart in the long run. IMHO all of this shifting and redefining is hard sciences percolating up into the clinics and up into morphologic taxonomy. As this happens, old mistakes are corrected.
In clinics, I will agree that phenotype (and therefore disease) is a many layered thing. It is a polyvariable situation; any number of factors can exacerbate or mitigate a pathology, and therefore push the balance from health to disease. You focus on the phenotype, I focus on the pathology. I think that the pathology is easy to define, it is easy to put a hard and fast box around it, and that this, in the future, will be enormously relevant to treat the disease.
The future. Let’s say that a 20 year old patient comes into your office with a sore wrist, which has been persistently sore for a month, and a little bit of fatigue. With a red-capped tube of her blood, you send for a panel of DNA testing, serum electrophoresis, and PCR and blood cultures for infectious agents. It could come back in any number of interesting ways. Maybe she has an infection, and you would give an antibiotic specific for the causative agent. Maybe what you are seeing is the first symptom of SLE with anti-dsDNA. You treat that with appropriate immunosuppressives or a specific drug which lowers the anti-dsDNA. Or rheumatoid arthritis. Or maybe she has an allele which predisposes her to early onset osteoarthritis, or osteomas, or osteosarcomas. Treat as such. Or perhaps, she just forgot to tell you that she fell on it and sprained it: the prostaglandins in her blood tell the story equally as well. Back to the standby NSAIDs and ice.
The DNA tests, the serum proteins, the infectious agent tests all define relatively simple pathologies with complicated phenotypes. Yeah I know it sounds less fun than what we do right now, but in the end, you have cured a disease rather than just treat the symptoms.
What about multifactorial disease? Alzheimer disease, breast cancer, Parkinson disease? We should still be able to make lists of alleles giving disease susceptibility. We should still be able to define the diseases not only genetically, but with precise biochemical tests (i.e. PD type 10B = general faults in the ubiquitination pathway in the dopaminergic neurons of the substantia nigra), and treat as such. Cancer in the same way, but since genetic changes take place in the cancerous tissue, the same analyses will be done on the cancerous and surrounding tissues as well as the normal ones.
The science behind diagnosis is focused on putting disorders into neater boxes based on their pathology. The question of how the pathology causes the disorders is still mostly unanswered. But the treatments of the future will focus on the pathology, unlike the treatments of today, which usually (apart from antibiotics and a few others) treat the symptoms. The treatment will be determined by the neat box of pathology, no matter how complicated the phenotype turns out to be. Or at least in the edwino wonder-world of the future. The ethics are still a matter of contention.
I maintain no illusions that this will be possible with every disorder, that everything will be “hard and fast.” People will still get sick in new ways, new disorders will crop up, “wastebasket” diagnoses will still be around, in which we can find no underlying pathology. Other diseases primarily of aging will still occur in “normal” people, due primarily to a lifetime of environmental exposure (I put it in quotes because as our resolution goes up, chances are no-one will be completely normal). In these cases, we try to define the disorder by the symptoms and treat them, just like we do today. Hopefully, these will be the exceptions rather than the rule.