Genetic Testing

Emerging Promise. Implications.

The Debate

The debate surrounding genetic testing in thrombophilia demonstrates why it is important to focus on what is best for each person, or to focus on a patient-centered approach that considers individual preferences, ethnic backgrounds, and personal health history.

Genetic testing can be offered like this as part of comprehensive care, with emphasis on patient education and shared decision-making that corresponds with the specific needs and preferences of the individual. This includes making sure that people understand what the test is for and the scope of information it can and cannot provide, and that they have a say in whether or not they want the test

Learn more about genetic counseling and how to locate a genetic counselor.

Genetic Testing and Thrombophilia

Implications

Individuals with genetic thrombophilia face an elevated risk of experiencing blood clots. Understanding one’s genetic predisposition can be crucial in implementing preventive measures and early interventions to reduce the risk of blood clots.

Diagnosing genetic thrombophilia involves a comprehensive assessment of an individual’s medical history, family history, and clinical symptoms. However, definitive diagnosis often requires genetic testing to identify specific mutations associated with thrombophilia. Common genetic tests include those for the factor V Leiden mutation, prothrombin gene mutation, protein C and protein S deficiency, and antithrombin deficiency.¹

Preventive Measures, Treatment

If a person is diagnosed with genetic thrombophilia, it doesn’t mean they will experience a blood clot. Thrombophilia is a condition where the blood has an increased tendency to clot, but not everyone with this genetic predisposition will develop a clot. In fact, many people with thrombophilia may never have any clotting issues throughout their lives.

Treatment or preventive measures may not be needed or recommended for people who have not experienced a blood clot. This is because the risk of developing a blood clot is influenced by a combination of factors, including genetics, lifestyle, and other medical conditions. In some cases, the risk may be low enough that no specific intervention is recommended.

The decision to initiate treatment or preventive measures for thrombophilia is typically based on an individual’s overall risk profile, which takes into account factors such as age, medical history, family history of clotting disorders, and lifestyle factors. For example, someone with a genetic predisposition to thrombophilia who also has other risk factors, such as smoking or a history of previous blood clots, may be advised to take preventive measures, such as using anticoagulation medications or making lifestyle changes to reduce their risk.

Ultimately, the management of thrombophilia is highly individualized, and recommendations for treatment or preventive measures should be made in consultation with a healthcare provider who can assess the individual’s unique circumstances and risk factors. It’s important for individuals diagnosed with genetic thrombophilia to discuss their condition with their healthcare provider to determine the most appropriate course of action for their specific situation. The management of genetic thrombophilia involves a multifaceted approach aimed at preventing clot formation and minimizing the risk of potential complications. Key aspects of treatment and management might include:

Anticoagulant Medications. Individuals with genetic thrombophilia may be prescribed anticoagulant medications to prevent the formation of blood clots. These medications, such as warfarin or direct oral anticoagulants (DOACs), work by inhibiting specific clotting factors.
Lifestyle Modifications. Adopting lifestyle modifications is essential in managing genetic thrombophilia. This may include maintaining a healthy weight, regular exercise, and avoiding factors that can trigger clot formation, such as smoking and excessive alcohol consumption.
Regular Monitoring. Individuals with genetic thrombophilia may require regular monitoring to assess their response to treatment and detect any potential complications. This monitoring often involves blood tests to evaluate clotting parameters.

Genetic testing for thrombophilia can aid in the early detection of blood clots, empowering healthcare providers to intervene proactively, leading to improved outcomes, reduced complications, and ultimately saving lives.

IMPROVED DIAGNOSIS

Genetic testing for thrombophilia can be helpful to improve blood clot diagnoses.

Blood clots can be tricky to diagnose. Their symptoms often mimic those of other health issues, such as asthma, muscle strains, and anxiety. If a person has a known clotting disorder and can share that information with their medical team, healthcare providers gain a clearer picture when blood clot symptoms do occur — even when symptoms are ambiguous.

Some people do not experience the most common symptoms of blood clots, while others experience no symptoms at all. This makes blood clot diagnosis even more challenging. Genetic testing can help identify individuals at risk for blood clots before symptoms appear. This proactive approach allows healthcare providers to implement preventive measures or monitor these individuals, potentially preventing complications like pulmonary embolism or stroke.

IMPROVED OUTCOMES

Genetic testing for thrombophilia can improve outcomes related to blood clots.

When individuals are identified as having a genetic predisposition to blood clots through genetic testing, healthcare providers can help patients understand the best way to minimize their clotting risks and, importantly, to navigate other risk factors, such as contraception choice, planned pregnancies, hospitalizations or surgery.

Early diagnosis, when symptoms of a blood clot do occur, allows for prompt initiation of appropriate therapies, such as anticoagulant medications, which can prevent the progression of blood clots and reduce the risk of complications like pulmonary embolism or stroke. By intervening at an early stage, the likelihood of severe outcomes, including disability and death, can be greatly diminished.

Genetic Testing in Women’s Health

Genetic testing for thrombophilia holds the promise of providing valuable information to inform decision-making in women’s health, particularly as it relates to contraception, pregnancy, and hormone therapy for menopause. By identifying individuals at higher risk of blood clots and implementing appropriate preventive measures and treatment strategies, the number of lives lost to blood clots in these contexts can be reduced.

Contraception

In contraception decision-making, women considering the use of combined hormonal birth control (i.e., birth control that contains both estrogen and progesterone) may undergo genetic testing to assess their risk for thrombophilia.

This information allows them, in consultation with their healthcare providers, to make informed decisions about the most suitable contraceptive method given both their personal preferences and their healthcare needs.

For individuals found to have a genetic predisposition to blood clots, alternative contraceptive options that pose lower risks for clotting can be considered, potentially preventing clot-related complications and fatalities associated with contraceptive use.

Pregnancy and Childbirth

During pregnancy and childbirth the risk for blood clots is naturally increased due to hormonal changes and other factors.

Genetic testing for thrombophilia can identify pregnant individuals at higher risk, enabling healthcare providers to implement preventive measures and closely monitor their condition throughout pregnancy.

By proactively managing the risk for blood clots, including appropriate anticoagulant therapy if necessary, the incidence of clot-related complications and maternal and fetal deaths can be significantly reduced.

Also, the risk for blood clots associated with pregnancy and childbirth among women with antithrombin deficiency is high when no anticoagulation therapy is prescribed.

Menopause

In the context of hormone therapy for menopause symptoms, genetic testing can help identify individuals with a genetic predisposition to thrombophilia who may be at higher risk of developing blood clots while undergoing hormone therapy.

While hormone therapy, particularly with estrogen, is a common treatment for menopause symptoms such as hot flashes, for example, there are non-hormonal approaches to the care of menopause symptoms that can be effective.

Healthcare providers can use this information to tailor treatment plans, potentially opting for alternative therapies or adjusting hormone doses to minimize the risk of blood clots and associated adverse outcomes.

Antithrombin deficiency and pregnancy

While it is a very rare form of thrombophilia, antithrombin deficiency can cause a severe risk of clotting. The risk for blood clots associated with pregnancy and childbirth among women with antithrombin deficiency is high when no anticoagulation therapy is prescribed:

About one-third of women affected by antithrombin deficiency experience their first clot due to pregnancy²
About 50 percent of women with antithrombin deficiency who previously experienced a clot will suffer another or recurrent clot as a result of pregnancy³
More than half of these pregnancy-related blood clots occur shortly after the baby is born⁴