NHS prevede di testare il DNA a tutti i bambini per valutare il rischio di malattia

(Waiting for all the conspiracy comments) “bill gates is coming for the children” “They want to clone our babies!” “Big pharma is trying to kill us all”

That’s awesome. Can we have testing for couples who want to try to conceive to see if they are both carriers for recessive disorders too?

Leak reported by the Torygraph apparently. I’m doubtful this is what it’s portrayed as here. Last time I looked NHS England was pretty lukewarm on an expansion of the 100k Genomes project because the ROI isn’t great. For a full genome test, you’re better off either using a more extensive panel-test (basically like the 23&Me, but with the probes all targeting single-gene conditions) and adding more common conditions like Type 1 diabetes because it’s way cheaper than full-genome sequencing (FGS) *or* offering FGS to those with an elevated risk of passing on those conditions, which is basically how the pilot project worked.

FGS is getting cheaper but it’s still a pretty big chunk of cash for something that’s highly speculative if rolled out across all births in a system that’s cash-strapped. So you want to be able to focus it where it can make more of a difference than “maybe eat fewer cakes, mmmkay”.