The essential role of genetic counseling in inherited thrombophilia

Paul Lochhead, Zosia Miedzybrodzka

Research output: Contribution to journalArticle

5 Citations (Scopus)


The discovery of common genetic polymorphisms that predispose to venous thrombosis has led to the widespread availability of molecular testing for genetic thrombophilia traits. In terms of consent, genetic tests differ significantly from other types of laboratory test. We demonstrate the need for genetic counseling before and after genetic thrombophilia testing, but emphasize that such counseling need not be delivered by a specialist. We describe the potential advantages, limitations, and disadvantages of genetic testing for the common thrombophilic mutations that should be borne in mind when explaining testing to symptomatic individuals and asymptomatic relatives. In the vast majority of cases, genetic testing for thrombophilia is of limited value to the symptomatic patient, and provides minimal benefit over and above the family history when it comes to counseling at-risk family members.
Original languageEnglish
Pages (from-to)126-129
Number of pages4
JournalSeminars in Hematology
Issue number2
Publication statusPublished - Apr 2007


  • factor-v-leiden
  • activated protein-c
  • deep-vein thrombosis
  • oral anticoagulant treatment
  • cost-effectiveness analysis
  • venous thromboembolism
  • antithrombin deficiency
  • familial thrombophilia
  • contraceptive users
  • decision-analysis


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