Re-Examining Genetic Screening and Oral Contraceptives: A Patient-Centered Review

Abstract

The World Health Organization classifies combined hormonal contraception as an unacceptable health risk in the presence of a known thrombogenic mutation but advises against routine thrombophilia screening before initiating combined oral contraceptives (COCs) on the grounds of high screening costs and low prevalence. From the perspective of patient-centered care, we examine cost, prevalence, and other published arguments for and against thrombophilia screening before initiating COCs. Our patient-centered review draws on relevant empirical evidence concerning the advantages and disadvantages of thrombophilia screening, while placing the discussion in the broader context of evolving attitudes toward genetic testing and a shifting policy landscape that provides many women direct access to COCs and/or thrombophilia screening. Given variation in prior probabilities of thrombophilia, expected exposure to other risk factors for venous thromboembolism, attitudes towards risk, expected reactions to a positive test result, ability to pay, and concerns about genetic discrimination, we conclude that the current one-size-fits-most approach is not consistent with patient-centered care. Instead, we advocate for greater patient and provider education concerning the implications of thrombophilia screening. Moreover, we recommend offering patients optional thrombophilia screening before initiating COCs.

Keywords: combined oral contraceptives; genetic screening; patient-centered care; thrombophilia screening.