Ordering genetic tests and interpreting the results

Adv Otorhinolaryngol. 2011:70:18-24. doi: 10.1159/000322466. Epub 2011 Feb 24.

Abstract

As the number of clinical genetic laboratories becomes more abundant, it will become increasingly challenging for clinicians in the medical and surgical specialties to navigate the vast menus of testing available and decide upon the most appropriate approach for molecular diagnosis of a particular disorder. There are many associated ethical and psychosocial issues involved with ordering clinical genetic tests of which practitioners need to remain aware, including predictive testing of minors, implications of the test result for other family members, theoretical risks of insurance or employment discrimination, and how to appropriately counsel families once test results have been finalized and reported. Finally, as the field of genetic testing changes so rapidly, it will be of great help for otolaryngologists to familiarize themselves and remain up to date with the general terminology and interpretive criteria that go into clinical molecular genetic laboratory reports, in order to make it useful and understandable to clinicians and patients.

MeSH terms

  • Employment
  • Ethics, Medical
  • Genetic Counseling
  • Genetic Predisposition to Disease
  • Genetic Privacy*
  • Genetic Testing*
  • Humans
  • Informed Consent
  • Otorhinolaryngologic Diseases / genetics*
  • Prejudice