A bottom up approach to investigating the correct method of diagnosis. Mutations influencing diagnosis.

Robert Bell rmsbell200 at YAHOO.COM
Thu Apr 5 01:15:40 UTC 2018

 Hi Bimal,
Am I correct in thinking that many mutations can often cause an inherited disease?
Presumably, the various mutations for a particular disease, do not express themselves in exactly the same way. Therefore are there certain mutations that are more common, that express themselves in a more "standard" way and it is that picture of history and symptoms that become the textbook example of the disease? Does that mean that the less common mutations are diagnosed less frequently? Is there any discussion on this that you know about.
How does the diagnostician take all those expressions of the disease into consideration when considering a diagnosis? 
Rob Bell, M.D.
   On Wednesday, April 4, 2018, 2:26:33 PM MST, Jain, Bimal P.,M.D. <BJAIN at PARTNERS.ORG> wrote: 
In this attached paper, I have adopted a bottom up approach by analyzing the process of diagnosis in practice to investigate the correct method of diagnosis. This is in contrast to the top down prescription of the Bayesian method for diagnosis on grounds of a general principle, that of rationality. I find the Bayesian method is clearly not the correct of diagnosis. The correct method consists of hypothesis generation and verification.
The analysis of the actual process of making economic decisions has revealed that persons make these decisions based on personal preferences and not by rational choice theory to maximize utility. This important finding has led to development of behavioral economics which has had a profound effect on the practice of economics.
I suggest the finding that the Bayesian method is not the correct method of diagnosis from process analysis should similarly alter the prescription of this method for diagnosis.
Please review and comment on this paper.
Bimal P Jain MD
Northshore Medical Center
Lynn MA 01904.

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