Journal of Genetic Counseling

, Volume 16, Issue 3, pp 261–277

Inherited Thrombophilia: Key Points for Genetic Counseling

Professional Development Paper

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.

KEY WORDS:

thrombophilia factor V Leiden prothrombin genetic counseling risk assessment venous thromboembolism recurrent pregnancy loss 

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Copyright information

© Springer Science+Business Media, LLC 2007

Authors and Affiliations

  1. 1.Department of Internal MedicineThe Ohio State UniversityColumbusUSA
  2. 2.Division of Molecular & Human GeneticsColumbus Children’s Hospital, 700 Children’s DriveColumbusUSA

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