Factor V Leiden Testing Is Not Medically Indicated in This Case
This testing should be denied as it does not meet established medical criteria for Factor V Leiden screening. The patient lacks the specific family history and clinical indications required by professional guidelines, and importantly, she has explicitly stated she does not want hormonal contraceptives, which eliminates the primary clinical scenario where testing might influence management decisions.
Why Testing Does Not Meet Medical Criteria
Family History Does Not Meet Threshold
The American College of Medical Genetics specifies that testing may be considered for "relatives of individuals known to have factor V Leiden" or those with "a family history of thromboembolism, APC resistance, or documented factor V Leiden mutation" 1. However, this patient's family history is insufficient:
- A great uncle with a blood clot is not a first-degree relative (parent, sibling, or child) 1
- The vague report of "family history of factor V" without documentation of which family members were affected or confirmed mutation status does not constitute the "documented factor V Leiden mutation" in a first-degree relative that guidelines require 1
- Guidelines specifically recommend testing for "relatives of individuals with venous thrombosis under age 50" 1, but there is no documentation that the great uncle's thrombosis occurred before age 50
Patient Is Not Considering Hormonal Contraceptives
The critical factor here is that the patient explicitly stated she does not want to take contraception and prefers natural management of her symptoms. 1
The American College of Medical Genetics clearly states: "Routine screening for factor V Leiden in asymptomatic women contemplating or using oral contraceptives is not recommended, except for those with a personal history of thromboembolism or other medical risk factors" 1. The guidelines further specify that "those women with a family history of thromboembolism, APC resistance, or documented factor V Leiden mutation should be counseled about their risks and options and considered for testing depending on the overall clinical situation" 1.
Since this patient is not contemplating hormonal contraceptive use, testing results would not change clinical management. The test would provide no actionable information that would affect her care or outcomes.
The Patient Has No Personal Thrombotic History
The American College of Medical Genetics recommends testing in specific clinical scenarios, none of which apply to this patient 1, 2:
- She has never had a venous thromboembolism 1, 2
- She has never had thrombosis in unusual sites 1, 2
- She has no recurrent thrombosis 1, 2
- She is not pregnant and has no history of pregnancy complications 1, 2
Random screening of the general population for factor V Leiden is explicitly not recommended 1, 2.
Clinical Context: Testing Would Not Improve Outcomes
Even if this patient were found to be a factor V Leiden carrier, the clinical implications would be minimal given her stated preferences:
- Heterozygous factor V Leiden carriers have a venous thrombosis rate of only 0.19-0.56% per year 1, which is a modest absolute risk
- Without hormonal contraceptive use, her baseline risk remains low 1
- The American College of Medical Genetics states that "in the absence of a history of thrombosis, long-term anticoagulation is not routinely recommended for asymptomatic Factor V Leiden heterozygotes" 3
- Knowledge of carrier status would not change management of her menorrhagia since she has declined hormonal options 1
Important Caveats About Testing Risks
The American Heart Association notes that "there may be unanticipated risks and psychosocial effects from screening for thrombophilias. Some asymptomatic individuals could face job-related issues or be denied healthcare coverage if it became known that they carry one of these mutations" 1. Testing an asymptomatic adolescent without clear medical indication exposes her to these risks without corresponding benefit.
Administrative Denial Is Also Appropriate
Beyond the lack of medical indication, the administrative denial based on out-of-network testing is valid according to the plan's Certificate of Coverage, which excludes services provided by out-of-network providers for HMO plans unless prior authorization is obtained [@administrative policy cited in case].
What Would Make Testing Appropriate
Testing would be medically indicated if any of the following applied [@5