The Regeneron report claims, “A diagnosis of FH can be made with a validated set of criteria, such as those established by the Dutch Lipid Clinic Network Criteria (DLCN).” This statement is contradicted by the report. Although distribution of the scores in the FH target and off-target populations is not precisely equal, the variability seen in the Regeneron report is enough to make the swap of the majority of mutation carriers undeniable. FH scoring systems, as if sufficient in and of themselves, do not work. The reports’ own published data proves the selection bias at work here.
The scores from the “DLCN” and other such scoring systems have a similar variability in both the FH sample and in the remaining population. This single premise of similarity where distinction is required is all that we need: the swap then follows by the immutable laws of mathematics. With a similar variability of FH scores pervading two populations, any cutoff point above any minimum score necessarily precludes all those below itself, while that similarity also precludes use of the cutoff point to make a distinction between all those above itself. With this poisoned premise, switching from genetic matching to cutoffs in a scoring system, the swap of patients is a mathematical necessity. (See the previous page.)
The scoring systems may help concentrate the pool of suspects, but the result is still grossly inflated with false positives. We may begin 1: 250 ~ 1:500, and after scoring, end with 1:10, but we still inflate the results with 90% false positives. A genetic match on the other hand endswith a rate of 1:1.
Recommending such scoring systems as if sufficient to identify FH is more than just bad faith. A critical, mathematical fracture is at work: when entire populations are tested for FH, most mutation carriers do not pass the scoring systems and most who pass the scoring systems are not mutation carriers. Thus, there is a swap of people that takes place when we switch from a genetic identification procedure to a circumstantial scoring system.
In a marketing environment, when one such procedure is used for advertising and the other for the point of sale, swapping the item of purchase, we have a scheme that is called “bait-and-switch.”