Actuality of Bait-and-Switch: Big Pharma uses genetic studies in order to prod others toward their default reliance on clinical scoring systems

It’s as if a researcher painted academic stripes on donkeys to save endangered zebras.

Big Pharma gets paid by the number of patients it can locate for its drugs. They hire experts which use the credibility of genetic studies in a demonstration which stresses, not the gross errors of relying on clinical scoring systems,but use genetics to prove that many genuine mutation carriers are not being treated, knowing full well that their listeners can and will only avail themselves of their inherited, poorly understood reliance on clinical scoring systems. All the while one of the main reasons why so many mutation carriers are passed over is because of the inaccuracy of relying on clinical scoring systems. It is Big Pharma’s duty to correct the misunderstanding, and instead, its cherry-picked and funded experts usher in the sense of urgency – “Underdiagnosis” and “patients are being passed over” – putting greater force behind the prevailing bias to do the rest of the work. To protect themselves, the experts add in disclaimers, with euphemisms like, “limitations to clinical diagnosis,” and choosing the word “caution” when using the worst case of APOB founder effect in the world as part of the proof of underdiagnosis. Culture is a fait accompli, and so the disclaimers have no effect on the prevailing use of clinical scoring systems, a species of circumstantial evidence. However, the disclaimer does take the edge off of professional and legal criticism. We have non-genetic diagnosis of a genetic disease.  Perniciously, the respect and confidence that goes with the accuracy and precision of forensic, genetic-based testing, actually aides the cultural use of the scoring systems, because now the underdiagnosis is a verified emergency and so we must make-do with what tools we’ve got.

false positives, genetic testing, clinical scoring, Familial hypercholesterolemia, FH prevalence,