Abstract
Genetic testing for inherited thrombophilia, including mutation analysis for factor V Leiden and prothrombin G20210A, is commonly performed. Yet, tests for inherited thrombophilia are frequently ordered inappropriately, and without proper counseling about the risks, benefits and limitations of testing. Genetic counselors are uniquely trained to help people understand and adapt to medical, psychological and familial implications of genetic contributions to disease. In the context of thrombophilia, genetic counselors may serve as a resource to other clinicians to: (a) identify individuals and families at increased risk for inherited thrombophilia, (b) offer and explain testing to patients and families, as appropriate, (c) facilitate patient-focused decision-making and informed consent prior to testing, (d) interpret test results, (e) explain inheritance patterns and discuss implications of thrombophilia for family members and (f) provide education and support resources. This article will provide insight into the training and roles of genetic counselors, review indications for thrombophilia testing, and highlight specific issues related to genetic testing, including genetic discrimination concerns.
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References
Spector EB, Grody WW, Matteson CJ, Palomaki GE, Bellissimo DB, Wolff DJ et al (2005) Technical standards and guidelines: venous thromboembolism (Factor V Leiden and prothrombin 20210G >A testing): a disease-specific supplement to the standards and guidelines for clinical genetics laboratories. Genet Med 7(6):444–453
Grody WW, Griffin JH, Taylor AK, Korf BR, Heit JA (2001) American College of Medical Genetics consensus statement on factor V Leiden mutation testing. Genet Med 3(2):139–148
McGlennen RC, Key NS (2002) Clinical and laboratory management of the prothrombin G20210A mutation. Arch Pathol Lab Med 126(11):1319–1325
Press RD, Bauer KA, Kujovich JL, Heit JA (2002) Clinical utility of factor V leiden (R506Q) testing for the diagnosis and management of thromboembolic disorders. Arch Pathol Lab Med 126(11):1304–1318
Professional Status Survey-The National Society of Genetic Counselors. http://www.nsgc.org/career/pss_index.cfm, Accessed April 21, 2007
Saukko PM, Richards S, Shepherd MH, Campbell J (2006) Are genetic tests exceptional? Lessons from a qualitative study on thrombophilia. Soc Sci Med 63(7):1947–1959
Bank I, Scavenius MP, Buller HR, Middeldorp S (2004) Social aspects of genetic testing for factor V Leiden mutation in healthy individuals and their importance for daily practice. Thromb Res 113(1):7–12
Hellmann EA, Leslie ND, Moll S (2003) Knowledge and educational needs of individuals with the factor V Leiden mutation. J Thromb Haemost 1(11):2335–2339
Marteau T (1999) Communicating genetic risk information. Br Med Bull 55(2):414–428
Cosmi B, Legnani C, Bernardi F, Coccheri S, Palareti G (2003) Role of family history in identifying women with thrombophilia and higher risk of venous thromboembolism during oral contraception. Arch Intern Med 163(9):1105–1109
Schambeck CM, Schwender S, Haubitz I, Geisen UE, Grossmann RE, Keller F (1997) Selective screening for the Factor V Leiden mutation: is it advisable prior to the prescription of oral contraceptives? Thromb Haemost 78(6):1480–1483
Makris M, Rosendaal FR, Preston FE (1997) Familial thrombophilia: genetic risk factors and management. J Intern Med Suppl 740:9–15
Seligsohn U, Zivelin A (1997) Thrombophilia as a multigenic disorder. Thromb Haemost 78(1):297–301
Grody WW, Griffin JH, Taylor AK, Korf BR, Heit JA (2001) American College of Medical Genetics consensus statement on factor V Leiden mutation testing. Genet Med 3(2):139–148
Press RD, Bauer KA, Kujovich JL, Heit JA (2002) Clinical utility of factor V leiden (R506Q) testing for the diagnosis and management of thromboembolic disorders. Arch Pathol Lab Med 126(11):1304–1318
Brenner BR, Nowak-Gottl U, Kosch A, Manco-Johnson M, Laposata M (2002) Diagnostic studies for thrombophilia in women on hormonal therapy and during pregnancy, and in children. Arch Pathol Lab Med 126(11):1296–1303
Laurino MY, Bennett RL, Saraiya DS, Baumeister L, Doyle DL, Leppig K et al (2005) Genetic evaluation and counseling of couples with recurrent miscarriage: recommendations of the National Society of Genetic Counselors. J Genet Couns 14(3):165–181
Wu O, Robertson L, Twaddle S, Lowe GDO, Clark P, Greaves M et al (2006) Screening for thrombophilia in high-risk situations: systemic review and cost-effectiveness analysis. The Thrombosis Risk and Economic Assessment of Thrombophilia Screening (TREATS) study. Health Technol Assess 10(11):1–110
Reich LM, Bower M, Key NS (2003) Role of the geneticist in testing and counseling for inherited thrombophilia. Genet Med 5(3):133–143
Varga, EA (2007) Inherited thrombophilias: key points for genetic counseling. J Genet Couns, May 1 [Epub ahead of print]
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Varga, E.A. Genetic counseling for inherited thrombophilias. J Thromb Thrombolysis 25, 6–9 (2008). https://doi.org/10.1007/s11239-007-0056-2
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DOI: https://doi.org/10.1007/s11239-007-0056-2