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Working Group: Topics

 

 

 

Completed Topics

 

Topic: Outcomes of Genetic Testing in Adults with a History of Venous Thromboembolism

EGAPP Recommendation: Pending

Summary Article: View Pubmed Citation external link

Evidence Report: Outcomes of Genetic Testing in Adults with a History of Venous Thromboembolism, external link Johns Hopkins Evidence-based Practice Center

Supplementary Evidence Report: N/A

Other products: Pending

 

Key Questions:

 

  • Question 1: Does FVL testing, alone or in combination with prothrombin G20210A testing, lead to improved clinical outcomes (e.g., avoidance of a recurrent VTE) in adults with a personal history of VTE or to improved clinical outcomes (e.g., avoidance of an initial VTE) in adult family members of mutation-positive individuals? Are testing results useful in medical, personal, or public health decision making?

 

  • Question 2: What is the evidence regarding the analytic validity of existing diagnostic tests for the FVL mutation and the prothrombin G20210A mutation, specifically their analytic sensitivity and specificity, reproducibility, and robustness (sources of variability)?

 

  • Question 3a: What is the evidence that the presence of FVL alone, prothrombin G20210A alone, or the two in combination predicts the risk of recurrent VTE in individuals (probands) who have had VTE and predicts the risk of VTE in the probands´┐Ż family members who have been tested? Does the testing add predictive information beyond clinical data?

 

  • Question 3b: What is the evidence that demographic or clinical factors modify the relationship between the presence of FVL or prothrombin G20210A and the risk of VTE?

 

  • Question 4a: What is the evidence that clinicians manage patients differently based on the results of testing for FVL or prothrombin G20210A? How do clinicians manage anticoagulation of individuals who have had testing, as compared to those who have not had testing? What other diagnostic tests do clinicians order or not order, based on testing results? What recommendations do clinicians make regarding other therapies and exposures, based on testing results?

 

  • Question 4b: What is the evidence that testing, and the resultant management, reduces VTE related outcomes or has other benefits in individuals who have had VTE or in the probands’ family members who have been tested?

 

  • Question 4c: What is the evidence of harms to individuals with VTE or to the probands’ family members who are tested for FVL or prothrombin G20210A as a result of testing or as a result of changed management based on the test results?

 

  • Question 4d: What is the evidence that testing for FVL alone, prothrombin G20210A alone, or the two tests in combination is a cost-effective strategy when caring for a patient with VTE or a family member of a proband?

 

Why EGAPP Selected this topic for Review:


Key criteria: Widely used drug to treat thrombophilia, possible inadequate data

 

Other Considerations: reviews by others, but dependant on clinical scenario

 

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Page last updated: May 15, 2013
Page last reviewed: June 29, 2008
Content Source: OPHG Staff