Reversing the procedural steps increases the risks of off-label sales

The same steps in a different sequence result in very different populations. The first step, as any good detective knows, is to create a list of suspects, and which may include the weaker forms of circumstantial evidence. We start with a wide net. The second step is to eliminate suspects from the pool through more decisive evidence. The FH industry reverses this more accurate epistemological sequence, and uses genetic testing only to sound the alarm, and then as the final step, recommends the circumstantial scoring systems. Most mutations are actually milder than previously thought and these milder mutations will remain undetected. At the same time, the scoring systems swap in Non-FH. Switching procedures for the point of sale is more profitable for Big Pharma.

FH genetic testing versus circumstantial scoring system, Familial hypercholesterolemia, FH prevalence

Note that both sequences abandon the milder FH. The solution lies with the industry’s third option, “Cascade Screening.”  But with that, profitability would be reduced. )

Genetic matching has value as an advertisement and as a legal and professional disclaimer, not as the procedure used at the point-of-sale — diagnosis for prescriptions. Thus, the procedural steps which mitigate risks are reversed.

Below, I provide additional proof of this reversal. I have pasted a few screenshots along with my comments and analysis: the upper illustration concerns the 2nd Danish report, and the lower illustration, the Regeneron report. (For the chapter that will follow, note how the reports declare genetic testing to be uncommon and unavailable.)

2nd Step 1st Step: Genetic testing is only performed to claim “underdiagnosis” academically.  It thus includes the milder mutation carriers. It is not practical however to test entire populations genetically.

The 2nd Danish Report

2nd Danish report, Familial hypercholesterolemia, LDLR, APOB and PCSK9,  FH3,  FH prevalence, underdiagnosis

The Regeneron Report

Regeneron report, Familial hypercholesterolemia, LDLR, APOB and PCSK9, p.Arg3558Cys, FCH, FH3, FDB, FH prevalence,

The 2nd Danish report’s conclusion

2nd Danish report, Familial hypercholesterolemia, LDLR, APOB and PCSK9,

To conclude with a recommendation to disregard the presence of a mutation, after having just stressed the urgency of a disease defined by the presence of a mutation, makes no sense. Dismissing genotyping (genetic testing) while recommending phenotyping (circumstantial characteristics) recommends the swapping out of genuine patients to swap in their look-alikes, their stereotypes.