Now what if we decided to take the total hits of the top four most frequent mutations in the 2nd report, 174, and instead of calculating in the remaining less frequent mutations, we simply appended them to the remainder of those categorized clinically as “Definite” and “Probable”? (297 + 19 DLCN FH + 174 Top4 hits = 490.) See the table below to compare the two methods. (If the reader has an objection to what will follow, these alternating target populations are precisely the point.)
Using the 1st report’s method on the 2nd report’s data (right) would inflate the results with false positives, while swapping out genuine mutation carriers. The difference between the two procedures illustrated above is the problem in the 1st report. 60% of those in the 1st report are the same individuals we see here in the 2nd report. So we will soon be working with airtight deduction. All our objections to using the two prevalence rates above for comparison are also present in the actual reconciliation of the 1st and 2nd reports. The 1st report is supposed to be the source for the “Authoritative” report.
- Let us carry forward a key observation: where are the majority of mutation carriers? Probable & Definite FH or Unlikely & Possible FH? They are mostly short of the passing score — mostly in the Unlikely & Possible clinical categories.