Date of Award


Document Type

Campus Access Thesis


Genetic Counseling

First Advisor

Peggy Walker


Thrombophilia is a complex, multifactorial condition in which the patient exhibits an increased susceptibility to form blood clots, especially in the veins of the lower extremities. A mutation in the gene encoding for factor V, known as factor V Leiden (FVL), is the most common cause of inherited thrombophilia, and contributes to thrombotic events by altering the quantity or function of coagulation proteins. Professional organizations, such as the American College of Medical Genetics (ACMG) and the College of American Pathologists (CAP), have published recommendations about the optimal time to test individuals for FVL by mutation analysis. Multiple studies have shown inconsistencies in the ability of physicians to adequately order, interpret, and explain genetic tests. The goals of this research are to evaluate if physicians are ordering FVL tests for appropriate clinical scenarios, and if these physicians are referring patients to genetic counseling for similar situations. A total of 45 surveys, 30 obstetricians and gynecologists and 15 internal medicine and family practitioners, were returned and completed by physicians practicing in South Carolina. Overall, obstetricians and gynecologists were more confident than internal medicine and family practitioners with regards to aspects surrounding FVL testing. Both physician groups reported similar likelihoods with regards to all clinical scenarios. There was more variation between the two groups of physicians with regards to potential barriers that prevent the integration of FVL genetic testing into clinical practice. We found that our hypotheses were not supported by the data obtained in this study. Instead, responses were generally consistent between obstetricians and gynecologists and internal medicine and family physicians, therefore showing little difference amongst the two groups. Overall, physicians did not feel that referral to genetic counseling was often indicated. The most often cited need for referral to genetic counseling when patient scenarios included a personal medical history or family history of venous thrombosis.


© 2010, Cynthia Stacy Lenarcic