Inherited thrombophilia: key points for genetic counseling

J Genet Couns. 2007 Jun;16(3):261-77. doi: 10.1007/s10897-006-9069-9. Epub 2007 May 1.


With the evolution of medical genetics to focus on highly prevalent, multifactorial conditions, it is inevitable that genetic counselors will be called upon to participate in the evaluation and counseling of individuals with inherited thrombophilia. The purpose of this review is to educate the genetic counselor on key issues related to risk assessment and genetic counseling for hereditary thrombophilia. The information contained in this document is derived from an extensive review of the literature, as well as the author's personal expertise. Upon completion of this review, the genetic counselor will be able to: a) describe inherited and acquired risk factors for thrombosis, b) collect and interpret personal and family histories to assess risk related to hereditary thrombophilia, c) discuss the potential advantages and disadvantages of thrombophilia testing, including psychosocial aspects and implications for medical management, and d) identify educational and support resources for patients and families.

Publication types

  • Review

MeSH terms

  • Abortion, Habitual / genetics
  • Abortion, Habitual / prevention & control
  • Antithrombin III Deficiency / genetics
  • Factor V / genetics
  • Female
  • Genetic Counseling*
  • Genetic Predisposition to Disease / genetics
  • Genetic Testing
  • Homocysteine / blood
  • Humans
  • Male
  • Methylenetetrahydrofolate Reductase (NADPH2) / genetics
  • Polymorphism, Genetic / genetics
  • Pregnancy
  • Prothrombin / genetics
  • Referral and Consultation
  • Risk Assessment
  • Thromboembolism / genetics
  • Thromboembolism / prevention & control
  • Thrombophilia / genetics*
  • Thrombophilia / prevention & control


  • factor V Leiden
  • Homocysteine
  • Factor V
  • Prothrombin
  • Methylenetetrahydrofolate Reductase (NADPH2)