genetics with stethoscopePatient-centered care, highlighted by the Institute of Medicine as a cornerstone of quality healthcare, emphasizes shared decision-making and patient education. As discussions around this approach to healthcare evolve, so do attitudes towards genetic testing, particularly concerning thrombophilia screening before initiating estrogen-based contraception.

Evolving Attitudes Toward Genetic Testing

Recent shifts in genetic medicine have given way to greater support for providing patients with actionable genetic information to enhance preventive care. Despite ongoing debate, there’s growing acceptance of genetic testing for conditions like breast cancer and Alzheimer’s disease. Similarly, thrombophilia screening enables informed decisions, especially in the field of women’s health, or for women considering their contraception options, planning a pregnancy, or seeking hormone treatment for menopause symptoms.

Changing Policy Landscape

Access to genetic testing is expanding, with at-home or direct-to-consumer options like 23andMe offering tests for genetic thrombophilia mutations. Also, policies that now allow pharmacist-prescribed contraception and, in some countries, over-the-counter options enhance contraceptive access. These changes empower women, but also necessitate informed discussions between patients and healthcare providers.

Re-Examining Thrombophilia Screening

Considering the various arguments for and against thrombophilia screening, particularly as decisions about contraception are made, it’s crucial to reassess the approach from the patient’s perspective. While routine screening might not be viewed as cost-effective, individual preferences and risk perceptions play a significant role, as do the potential long-term physical and psychological consequences of blood clots and concerns about genetic discrimination.

To aid in the understanding of this crucial debate about thrombophilia and genetic testing, the Rowan Foundation has created a new collection of information about the topic, which can be viewed on our website here, here, and here. In upcoming weeks and months, we will be expanding these resources to include additional educational tools and videos about thrombophilia and genetic testing.

As the debate surrounding genetic testing evolves, we know that it will shape healthcare into the future and that genetic testing will emerge as an essential component of informed decision-making across a spectrum of clinical categories. And, as the application of genetic testing expands, patients considering their contraception options, as well as those considering pregnancy or considering hormonal treatment options for menopause symptoms, should have access to comprehensive information about thrombophilia screening’s benefits and drawbacks.


To learn more about the potential role of genetic testing in women’s health, click here.
To learn more about contraception decision-making and genetic testing, click here.