Exploring Genotype Data and Polygenic Risk Scores in Thrombophilia Screening

The ACOG, CDC, and WHO currently do not recommend universal screening for thrombophilia in the general population before starting oral contraceptive pills. However, a new publication in AJOG (March 2024) is challenging that stance. In this episode, we will review this new prospective population-based study to see if it makes the case for universal screening for thrombophilia variants before starting OCPs. In this episode, we’ll also discuss high-risk versus low-risk thrombophilia, discuss relative risk versus absolute risk of VTE on the combination pill, and give clear clinical implications for patient management.