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moooo99 6 hours ago

Generic screening is where I draw a line where the risk of substantial damage is just too high to justify it.

I am nowhere near an expert on this matter, but probably more informed than the average Joe. What always strikes me in these kinds of debates among non experts is - as outlined in the article - how people equate genetics to certainty. This assertion does not hold up at all once you start taking an even superficial look, but most people never do that.

If you justify this kind of screening on todays data, that most likely overestimates the penetrance for most conditions, you also cannot undo it in the future. If you start screening now and after 30-40 years it turns out your lifetime risks were off by a factor of 3, you still have created a generation that (possibly) underwent extensive and invasive screening, waiting for a diagnosis.

nedruod 5 hours ago | parent [-]

You cannot undo anything that's history, including not testing. If you missed a chance to get other tests or treatment early in life, you don't get the chance to fix that later either.

It would be easier to be cautious on penetrance, and reevaluate later, than to never collect the data and hope something changes. The number of these calls to limit our access to data are piling up, and they shouldn't be taken one at a time.

https://substack.norabble.com/p/more-data-please

jvanderbot 5 hours ago | parent [-]

You're confusing mandatory public health level screening with opt-in personalized screening. The former is questionable at best - genetic diseases have very little external consequences, just the family / individual might suffer. Any argument about external consequences to neighbors/taxpayers slides us right into the dystopian future you'd like to avoid.

OTOH, we should have off the shelf genetic testing that sends you an SD Card / email and then deletes /anonymizes the results thereafter. You could bring that to a doc when you wanted to, and read the full results yourself. Very little harm in that aside from a de-anonymization campaign.