A systematic review published by Department of Population Health researchers Dr Ka Keat Lim, Professor Julia Fox-Rushby and Professor Charles Wolfe, and Professor Philip Chowienczyk in Cardiovascular Medicine & Sciences, has been named one of The Pharmacogenomics Journal’s 15 most cited, downloaded and shared papers in 2021. These statistics include press coverage, blogs, Twitter, Facebook and Weibo.

The research was motivated by the authors’ interest in the use of genetic testing to inform the use of medication (pharmacotherapy) for blood clots in the veins, otherwise known as Venous Thromboembolism (VTE).

The paper, Genetic-guided pharmacotherapy for venous thromboembolism: a systematic and critical review of economic evaluations, provides analyses of research studies that weighed the cost and health benefits of genetic-guided pharmacotherapy and compared it with other interventions among patients with VTE.

Speaking on the paper’s popularity with readers, Dr Lim said:

VTE is a major cardiovascular disease and patients with previous VTE are at high risk of recurrence. A particular type of genes in some patients predisposes them to a 2x higher risk of VTE recurrence. In addition, while blood thinners are commonly used to treat VTE, a second type of genes confers about a 2x higher risk of bleeding to its carriers following the use of these medications.

Although the roles of genes are known, genetic-guided pharmacotherapy is not routinely provided in clinical practice for patients with VTE. However, due to a reduction in cost and increased availability of services, genetic testing is becoming more accessible to patients and clinicians. The authors detected a need to systematically look through existing economic evaluations to identify gaps in evidence and research, to see whether there was enough evidence to inform a policy decision to provide such tests in clinical practice.

Although the economic evaluations gave a mixed picture of whether the benefits of the intervention outweigh the cost, the authors believe their study highlighted the gaps in current research and methodologies. These gaps will inform the design and conduct of future research, especially in health systems where economic evidence is essential in advising decisions to provide a health service.