If one judges by the news, announcements, and movies, the standard medical genetic practice is pictured to be just short of some kind of magic or, at least, to be on the cutting edge of technology. The doctors make a finger prick or take saliva sample from the affected patients and within a few hours or day at most they find the answer and miraculous cure for the disease. This hyperbolic image is essentially propagated from the times of human genome project that was “finished” in 2000. The reality is not so glorious as we would wish to believe.Since in the past decade the general public did mot see much of a change in the routine medical practice, a lot of skepticism have been installed in the minds of not only patients but the doctors themselves.  Worse, doctors, health providers and health regulators alike are not only skeptical of benefits of genetic testing, but also are very reluctant to incorporate even approved and validated genetic tests for disease susceptibility or drug response in their daily practice.  Some argue that the main reason for low market penetration is that genetic tests are still  expensive. The reality is, genetic tests are by far less costly than the CT scans and other fancy modes of imaging, which are ubiquitously used as “insurance” measure for potential malpractice suits  when doctors cannot reliably put a finger on the disease cause.

In my previous analyses I have identified the two main reasons for the under utilization of genetic testing, which are

  • the lack of “reimbursement” for doctors prescribing the test genetic, and
  • the inability to interpret intelligently the genetic testing by most of the physicians.

We naively believe that at least the medical geneticists should be the champions of the implementation of advanced genetic testing in their medical practice. However, in reality, the current medical practices reminds me of the early days when automobiles were first introduced to public roads when due to a fear for public safety, the approach of the Dudgeon, the first steam automobile, had to be announced ahead by a running boy.

This analogy comes to mind due to the fact that the medical geneticists’ mental model functions as follows:

This model is taught and fostered by all medical colleges and further entrenched during the residency training. Practical implementation of this model leads to several problems:

  • Long wait times
  • High rates of “failure” to identify the disease causing variants
  • High cost of genetic testing – due to low disease-specific genetic test volume and extreme test specialization
  • Lower clinical utility because only subset of mutations identified
  • Patient dissatisfaction with genetic counseling services

Analyzing the roots of these pitfalls I came to conclusion that they primarily stem from the current workflow implemented in most of the genetic clinics:

But why are we following this routine? Can we do better?

Yes, we can but we have to change the mental model and we should start investigating the patient with “Let’s find the mutation!” and begin with an unbiased genetic test, i.e.  sequencing, followed by data analysis and validation.

Such simplified workflow will:

  • Eliminate the need for unwarranted intermediaries and bureaucracies
  • Speed up process
  • Alleviate the bottlenecks (medical geneticists)
  • Reduce the cost of genetic testing through substitution the plethora of genetic tests by a comprehensive and unified genetic analysis
  • Increase clinical utility through unbiased identification of disease-causing and the modifying variants.

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 Inherited disease predisposition
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