Genetic Testing & Contraception Choice

Informed Decisions. Personal Choice.

Informed Decision-Making in Reproductive Health

When you are affected by genetic thrombophilia, selecting the right birth control is crucial. Some birth control methods with hormones, like the pill, patch, or ring, can increase anyone’s risk for blood clots. Among women with genetic thrombophilia, that risk increases dramatically, which is why informed decision-making is such a crucial aspect of reproductive health.

Understanding the Debate

In light of shifting perspectives, advances in technology, recent product availability, and changing healthcare policies, the debate surrounding thrombophilia screening prior to starting estrogen-based contraceptives continues to evolve.

This complex debate can be summarized by comparing the most current medical guidelines to the platform supported by a patient-centered approach to care.

  • Blood clots are rare among women of child bearing age who are healthy and who do not use hormonal birth control: Between one and five out of every 10,000 of these women annually will experience a blood clot.1

  • Hormonal birth control methods increase a woman’s risk for blood clots: The rate of blood clots among healthy women who do take hormonal birth control is higher, or about three to nine out of every 10,000 women each year.2 These women have about a four-fold risk of developing a blood clot linked to hormonal contraception.3

  • If a woman has a genetic clotting disorder like factor V Leiden and uses hormonal contraception, her clotting risk is 35 times greater.4

  • Research has shown that hundreds of women in the U.S. die each year due to blood clots linked to combined hormonal contraception,5 and the overall risk for death linked to hormonal contraception is estimated to be about 1 in 100,000 women per year,6 suggesting that thousands of deaths globally may be caused by estrogen-based birth control each year.

Current Guidelines

Current guidelines7 suggest against testing all women for thrombophilia before they start using birth control with hormones. One reason is that genetic testing can be expensive, and only a small number of people actually have the genetic mutations that cause thrombophilia.

Studies evaluating universal or selective thrombophilia screening before estrogen-based contraception suggest that universal screening isn’t cost-effective. Selective screening, focusing on those with a personal or family history of blood clots, shows better results.

These guidelines also suggest against universal testing because the chance of getting a blood clot is low, and because some birth control methods that don’t have hormones might not be as effective and/or lead to other health risks.

Other reasons cited in guidelines advising against routine screening point to concerns that test results might affect some women psychologically, as well as the possibility that women could be treated unfairly by insurers or employers due to the identification of an underlying genetic disorder.

Patient-Centered Platform

Advocates of thrombophilia testing before a woman chooses to use an estrogen-based form of birth control stress that it will help identify women who might be more likely to experience a blood clot linked to hormonal contraception. In this way, women can work with their healthcare providers and make informed decisions with their specific medical needs in mind. Most importantly, in this context, genetic testing can help to reduce the number of lives lost due to blood clots linked to hormonal contraception.

Proponents of genetic testing point to the potential complications and long-term health impact of blood clots, the economic impact of lost productivity due to complications or disabilities related to blood clots, and the lifelong benefits of knowing one’s thrombophilia status.

Patient-centered care emphasizes patient involvement in decision-making. New policies that allow direct access to thrombophilia testing and contraception from pharmacists promote autonomy. However, current approaches lack individualization and patient education and access to these options is crucial.

Drilling Down on the Debate

The debate surrounding this issue is complicated. It’s important to weigh several different factors carefully if you’re thinking about getting genetic testing before choosing birth control. It’s also important to discuss these factors with your healthcare provider and, if possible, with a genetic counselor who can offer expert guidance.

For some women and their families, the value of preserving health and saving a life far outweighs the potential cost of genetic testing.

While the expense of genetic testing may be seen by third-party payers or insurance providers as not cost-effective, some women or their families may be willing to bear such screening costs, depending on their risk perception and financial means. In fact, several studies have demonstrated that many women express a willingness to pay for thrombophilia screening themselves.

A number of health insurance plans will cover expenses for laboratory genetic testing, but they do require that the test be recommended by a physician. While most insurance companies will not cover the cost of direct-to-consumer genetic tests, like 23andMe, the Internal Revenue Service in the U.S. ruled in 2019 that funds derived from a person’s Health Savings Account (HSA) or Flexible Spending Account (FSA) can be used to cover some services provided by direct-to-consumer genetic tests if they are shown to be directly related to a medical condition.8

Some women and their families are willing to pay for the testing given their concerns about their health risks and, of course, if they can afford to do so. In fact,  research has shown that many women are willing to pay for genetic testing.9

Even though some people say genetic testing costs too much and might not be helpful, what really matters to women is whether this information can help them make better decisions about their overall health going forward.

Knowing if they have a genetic risk for blood clots and learning about their own chances of getting blood clots can help women be more careful in higher risk situations, like choosing estrogen-based contraception or becoming pregnant, both of which can increase a woman’s risk for blood clots. They might also be more motivated to better manage other risks for blood clots, such as eating better, staying at a healthy weight, and quitting smoking.10, 11, 12

Absolute risk refers to the real chance that something will happen during a certain time, no matter what else is going on. When we talk about thrombophilia, absolute risk is the exact chance that someone will get a blood clot in a certain period, like a year. It is usually stated as a percentage to show how many people out of a hundred might get a blood clot during that time.

Although the absolute risk for blood clots among people with a known genetic clotting disorder may seem low, personal factors should still be considered.

In some cases, the use of estrogen-based contraception for a long time can slowly increase the risk for blood clots. In other cases, there are women who take hormonal contraception for just a short period of time, or just weeks or months, before they experience a blood clot.

Also, the number of people with genetic clotting disorders varies a lot between different groups of people. Therefore, using the same approach for everyone might not be right for each person. In places where more people have genetic clotting disorders, it might be helpful to talk individually with a healthcare provider before starting birth control with hormones.13

Blood clots can cause serious health problems and can be deadly, and the complications of blood clots can cause long-term medical issues and financial strain. Some women might want to get tested for genetic clotting disorders before starting birth control to make sure they’re making the best choice for their health and future. Finding out about a genetic clotting disorder also helps family members who might have it too. Sometimes, getting a negative result from a test might make someone feel safe, but it doesn’t mean that they will never get a blood clot. It’s always important to know the signs and symptoms of a blood clot and get help fast if they occur.14, 15

It’s crucial that a woman talk with her healthcare provider about what her genetic test results mean. Genetic counselors can also provide valuable help when someone finds out they have a genetic problem like a clotting disorder.

When genetic testing before the selection of birth control is considered, it’s important to be equally attentive to both safety and effectiveness.

If a woman learn that she does have an underlying clotting disorder, she should never compromise or settle on a birth control method that is less effective. Doing so can make her more likely to get pregnant.

There are birth control options that work well for women who have genetic thrombophilia without further increasing their clotting risks. Some of these options include copper intrauterine devices (IUDs) or progestin-only pills. Both of these options work just as well as regular birth control pills, and they don’t increase the risk for blood clots.16, 17

Whenever genetic testing is pursued, it’s important to think about how the test results might affect you psychologically, or how it all might make you feel. A positive result could cause you to worry for no reason, but a negative result might make you feel too safe, especially when it comes to blood clots.

Several studies have actually shown that this aspect of genetic testing is not as problematic as some might think: While some people might feel more worried after learning they have a genetic clotting disorder, most people, no matter the result, do not regret getting tested for blood clot risks. In fact, one study showed that when people learned they had a higher risk for blood clots through genetic testing, they still reported that they thought it was better to know than not know.18, 19, 20

Some people worry that if they find out they have a genetic condition like thrombophilia, they might be treated unfairly at work or when buying insurance. Even though there are laws like the Genetic Information Nondiscrimination Act (GINA) to stop this, they might not cover everything, like life or disability insurance. Studies show that people with thrombophilia – even if they have no symptoms or never experienced a blood clot – might still have trouble getting these insurances or might have to pay higher premiums.21, 22, 23, 24

Despite the laws in place, it’s crucial that women considering thrombophilia testing fully understand and explore these decisions and the impact their thrombophilia status might have in this regard. These issues might deter some people from choosing to get tested for thrombophilia.

Empowering Women

Genetic testing can empower women by providing them with comprehensive information about their genetic predisposition to thrombophilia. Armed with this knowledge, they can actively engage in discussions with their healthcare providers, participate in shared decision-making, and choose contraceptive methods aligned with their genetic risk profile. Informed choices, supported by genetic information, contribute to a more personalized and patient-centered approach to reproductive healthcare.

Read more about blood clots and contraception decision-making here.
Learn more about the work of the Rowan Foundation here.