Key result
The addition of genetic risk factors and polygenic risk scores to clinical prediction models could improve risk estimation for recurrent venous thromboembolism to guide anticoagulation strategies.
Incorporating polygenic risk scores into prediction models may improve risk estimation for recurrent VTE and help tailor the duration of anticoagulation therapy.
Venous thromboembolism (VTE) is one of the major health problems all over the world. VTE has a long-term risk of recurrence, and the prevention of recurrent VTE by anticoagulation therapy is essential for the long-term management of patients with VTE. The current guidelines recommend extended duration of indefinite anticoagulation therapy for patients with VTE except for not-high-recurrent risk patients or high-bleeding risk patients based on patient characteristics.1 However, there could be still uncertainty about the risk estimation of recurrence as well as bleeding, and optimal duration of anticoagulation therapy for patients with VTE. Several prediction models of recurrence have been developed based on patient characteristics and laboratory data, and some of them included congenital thrombophilia such as Factor V Leiden and Prothrombin G20210A as a score component.2 VTE could be more associated with genetic risk factors compared with other cardiovascular disease, but there have been still limited data on the influence of genetic risk factors of VTE. The addition of genetic risk factors to clinical prediction models could improve risk estimation in the filed of VTE. Very recently, a number of potential genes for development of VTE have been reported through single nucleotide polymorphism-arrray genotyping, whole exome sequencing, and whole genome sequencing using large-scale biobanks.3–5 Based on these genetic findings, polygenic risk score (PRS) from common variants and rare variants could be better risk prediction of development of VTE. Furthermore, the prediction model with PRS could estimate the risk of recurrent VTE more accurately, which could be useful for the decision-making of anticoagulation strategies. However, the prediciton model with PRS for the purpose has not currently been developed. For the future of precision medecine in the VTE field, it would be warranted to promote further studies including a large-scale VTE registry with detailed genetic data (Figure 1). Schema of future prediction model for recurrent venous thromboembolism. Conflict of interest: Dr Yamashita received lecture fees from Bayer Healthcare, Bristol–Myers Squibb, Pfizer, and Daiichi Sankyo, and grant support from Bayer Healthcare and Daiichi Sankyo. No new data were generated or analysed in this study.
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Ikeda et al. (2024) conducted an editorial in Venous thromboembolism. Polygenic risk score (PRS) was evaluated. The addition of genetic risk factors and polygenic risk scores to clinical prediction models could improve risk estimation for recurrent venous thromboembolism to guide anticoagulation strategies.
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