Saturday, July 21, 2007

Pediatric Ear Nose and Throat but Not Gene Specialists


In the Archives of Otolaryngolgy last month a questionnaire was sent to pediatric Ear, Nose and Throat (ENT) doctors. These physicians frequently evaluate things such as recurrent ear infections or even childhood hearing loss.


A significant amount of this hearing loss can be attributed to genetics. This survey intended to see how many ENT's used genetic testing, whether they were able to handle results as well as counsel properly.


Here's what they found


  1. 69% indicated that they use genetic testing of the connexin 26 (Cx26) gene (GJB2) as an initial test in their workup of prelingual sensorineural hearing loss
  2. 71% reported that they provide genetic counseling for their patients and their families

  3. 45% answered questions regarding recurrence risks incorrectly or stated that they did not know the correct response

The Sherpa Says: This is precisely why we need genetic counselors and geneticists. 45% is not a small number, but I was surprised it wasn't 75%. At a minimum we need a good curriculum in medical school which teaches the principles in this ever changing field. Too bad you can't just pick up genetics on the job. Trust me, you can't. I warn you to run away from any physician who states that they have!

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