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I guess you disagree with my point that having a disease is different from having the risk allele for it, but I stand by that distinction. I specifically addre
by carbocation 3y ago
I guess you disagree with my point that having a disease is different from having the risk allele for it, but I stand by that distinction.
I specifically addressed timing of onset being important in my original comment, because that matters to the person living with the problem.
- ferfumarma 3y agoI agree: the word "disease" necessarily implies signs or symptoms of some kind. But what does that add? The entire point of the article is that the carriers are not symptomatic yet, so where's the confusion?
- carbocation 3y ago> The entire point of the article is that the carriers are not symptomatic yet, so where's the confusion? I don't think there is any confusion. In medicine, the disease begins when the symptoms start. Indeed, it's useful to be able to distinguish being a carrier from having a disease.
- carbocation 3y agoA coda that I would add is that as our ability to detect abnormalities expands thanks to improved diagnostics, what we consider to be a sign of disease will evolve. We can’t translate from DNA to biochemistry for almost any trait except for Lp(a), so I don’t count DNA as being a sign right now. But eventually it could be. That will moot this conversation, because at that point we will all be in agreement. Before cholesterol testing, the sign for FH was a thick layer of lipid particles visible when blood was drawn. As our diagnostics improved, the sign of hypercholesterolemia has been refined to a quantitative value. And each field is trying to accomplish the same.