Scientific culture precedes science

Science in America is still in a life and death struggle with its own culture. As a publication strategy, the aim and function of the Authoritative report is to keep clinical diagnosis on the table alongside the more rigorous molecular approach. Clinical testing must not be presented as one of two steps toward definitive confirmation, but clinical testing must be regarded, in itself, as sufficient for identifying FH. It is a publication strategy which not only omits new discoveries but actively pushes the prevailing cultural error all the way through drug testing and FDA approval. Clinical testing for this genetically inherited disease is now taken for granted as the “gold standard,” not genetic testing. As a consequence of this cultural success, real mutation carriers are swapped out of the patient pool, and non-mutation carriers are swapped in.

And the irony is that “FH” is indeed underdiagnosed. There will be underdiagnoses … because Clinical testing is not going to find the majority of mutation carriers, and this is because most mutation carriers are below the clinical detection point. The authors’ own 2nd report shows this. And the predominant clinical solution recommended in the Authoritative report is the cause of molecular underdiagnoses.

The pharma industry has funded and promoted a social condition whose strategic outcome is an increased error-rate in diagnosis, resulting in an increased number of off-label prescriptions. It effectively renames the FDA indication for “FH” drugs.  This also inflates the addressable market and misrepresents the source of revenue.

 “This prevalence of FH is comparable to our previous report in a smaller sample of the same population based on phenotypic DLCN criteria alone.” ~ 2nd report, Benn, et al. 2016

No. False and False.

  1. The unflooded Bakersfield may have a “comparable” population to the flooded New Orleans, but it would be deceitful to draw such a conclusion in the context of flood relief for the unflooded Bakersfield.  Likewise, the clinical total which includes the clinically accessible false positives compares well with the molecular total which includes the clinically inaccessible false negatives, but it is deceitful to draw such a conclusion in the context of selling new and risky drugs based solely on clinical determinations. The majority treated will not have LDL-R mutations.  They will be off-label.
  2. 60,710 out of 69,016 from the study were genotyped. There were approximately 100 molecular hits. These genotypic hits were demoted by giving them a clinical score, and thus placing them among the phenotyped. This procedure allowed the authors to dodge a responsible showing of the original DLCN scores. What did these molecular hits look like before reassignment to the clinical?  The fact that most of the mutation hits would have been impractical in a real-world, clinical setting is now rendered obscure. False Positives can successfully masquerade as True Positives, while False Negatives – the genuine mutation carriers — are abandoned.