Genetic testing: practical, ethical, and counseling considerations

Mayo Clin Proc. 2005 Jan;80(1):63-73. doi: 10.1016/S0025-6196(11)62960-1.


Genetic testing is becoming a much more common practice in medicine today. This presents a unique set of challenges for medical professionals in virtually all specialties. The practical aspects of determining which test to order, and in interpreting the result accurately in the context of the family history, can be difficult. Additionally, the ethical conundrums that frequently present themselves when genetic risk assessment and/or genetic testing is being considered can be daunting. These challenges present real concerns for medical professionals and patients alike. Included in this article is a review of some of the practical and ethical complexities associated with genetic testing. Pretest and posttest genetic counseling is also emphasized as an important and essential process in today's medical practice.

Publication types

  • Case Reports
  • Review

MeSH terms

  • Adolescent
  • Adult
  • Algorithms
  • Breast Neoplasms / genetics
  • Child
  • Colorectal Neoplasms, Hereditary Nonpolyposis / genetics
  • Confidentiality
  • Cystic Fibrosis / genetics
  • Ehlers-Danlos Syndrome / genetics
  • Female
  • Genetic Counseling* / ethics
  • Genetic Counseling* / psychology
  • Humans
  • Huntington Disease / genetics
  • Informed Consent
  • Male
  • Ovarian Neoplasms / genetics
  • Prejudice
  • Tay-Sachs Disease / genetics