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Inherited thrombophilias are a group of disorders that predispose to thrombosis. Genetic testing is available for some of these disorders and could potentially assist in the diagnosis and/or management of patients with thrombosis.
The overall U.S. incidence of venous thromboembolism (VTE) is approximately 1 per 1,000 person-years, and the lifetime clinical prevalence is about 5%, accounting for 100,000 deaths annually. Risk is strongly age-related, with the greatest risk in older populations. VTE also recurs frequently; the estimated cumulative incidence of first VTE recurrence is 30% at 10 years. These figures do not separate patients who had known predisposing conditions from those who do not.
Risk factors for thrombosis include a variety of clinical and demographic variables, and at least one risk factor can be identified in approximately 80% of patients with a thrombosis. The following list includes the most important risk factors:
Treatment of thrombosis involves anticoagulation for a minimum of 3 to 6 months. Following this initial treatment period, patients deemed to be at a continued high risk for recurrent thrombosis may be continued on anticoagulation for longer periods, sometimes indefinitely. Anticoagulation is effective in reducing the subsequent risk of thrombosis, but has its own risks of bleeding.
Pregnancy is often considered a special circumstance because of its frequency and the unique considerations of preventing and treating VTE in this setting. Pregnancy is associated with a 5-10-fold increase in the risk for VTE, and the absolute risk of VTE in pregnancy has been estimated to be 1-2 per 1,000 deliveries. In women with a previous history of pregnancy-related VTE, the risk of recurrent VTE with subsequent pregnancies is increased greatly at approximately 100-fold.
Inherited thrombophilias are a group of clinical conditions characterized by genetic variant defects associated with a predisposition to thrombosis. However, not all patients with a genetic predisposition to thrombosis will develop VTE. The presence of inherited thrombophilia will presumably interact with other VTE risk factors to determine an individual’s risk of VTE.
There are a number of conditions that fall under the classification of inherited thrombophilias. Inherited thrombophilias include the following conditions, which are defined by defects in the coagulation cascade:
The most common type of inherited thrombophilia is a factor V Leiden mutation, which accounts for up to 50% of the inherited thrombophilia syndromes. In unselected patients with an idiopathic thrombosis, the rate of factor V Leiden positivity is 17-24%, compared to a rate of 5-6% in normal controls. The prothrombin G20210A mutation is found less commonly, in approximately 5-8% of unselected patients with thrombosis, compared to 2-2.5% of normal controls.
Genetic testing for gene variants associated with thrombophilias is available for factor V Leiden, the prothrombin G20210A mutation, and MTHFR gene. The use of genetic testing for inherited thrombophilia can be considered in several clinical situations. Clinical situations addressed in this policy include the following:
Several genetic tests for thrombophilia have received FDA marketing clearance for use as an aid in the diagnosis of patients with suspected thrombophilia. Several of these tests are listed below.
Genetic Tests for Thrombophilia Cleared by FDA
* FDA marketing clearance was granted to Sequenom Bioscience before it was acquired by Agena.
** FDA marketing clearance was granted to Osmetech Molecular Diagnostics.
Other commercial laboratories offer a variety of diagnostic procedures for F2 (prothrombin, coagulation factor II), F5 (coagulation factor V), and MTHFR (5, 10-methylenetetrahydrofolate reductase) genetic testing. Clinical laboratories may develop and validate tests in-house and market them as a laboratory service; laboratory-developed tests (LDTs) must meet the general regulatory standards of the Clinical Laboratory Improvement Act (CLIA). Commercial thrombophilia genetic tests are available under the auspices of CLIA. Laboratories that offer LDTs must be licensed by CLIA for high-complexity testing. To date, FDA has chosen not to require any regulatory review of this test.
Related medical policies are –
POLICYGenetic testing for inherited thrombophilia, including testing for factor V Leiden mutations, prothrombin gene mutations, and mutations in the MTHFR gene, is considered investigational.
POLICY GUIDELINESInvestigative is defined as the use of any treatment procedure, facility, equipment, drug, device, or supply not yet recognized as a generally accepted standard of good medical practice for the treatment of the condition being treated and; therefore, is not considered medically necessary. For the definition of Investigative, “generally accepted standards of medical practice” means standards that are based on credible scientific evidence published in peer-reviewed medical literature generally recognized by the relevant medical community, and physician specialty society recommendations, and the views of medical practitioners practicing in relevant clinical areas and any other relevant factors. In order for equipment, devices, drugs or supplies [i.e, technologies], to be considered not investigative, the technology must have final approval from the appropriate governmental bodies, and scientific evidence must permit conclusions concerning the effect of the technology on health outcomes, and the technology must improve the net health outcome, and the technology must be as beneficial as any established alternative and the improvement must be attainable outside the testing/investigational setting.
The coverage guidelines outlined in the Medical Policy Manual should not be used in lieu of the Member's specific benefit plan language.
POLICY HISTORY11/15/2012: Approved by Medical Policy Advisory Committee.
11/06/2013: Policy reviewed; no changes.
09/02/2014: Policy reviewed; description updated. Policy statement unchanged.
07/30/2015: Code Reference section updated for ICD-10.
11/03/2015: Policy description updated regarding genetic tests. Policy statement unchanged. Investigative definition updated in the policy guidelines section.
SOURCE(S)Blue Cross Blue Shield Association policy # 2.04.82
This may not be a comprehensive list of procedure codes applicable to this policy.