How Stroke Genetics Is Impacting Clinical Care: Now and the Future

The past decade has seen a transformation in our understanding of the genetics of stroke. However, a commonly asked question is how do these advances impact the practicing clinician now, and what are their implications for clinical care in the future? This review outlines the major recent advances in stroke genetics and addresses 4 questions most relevant to the clinician: What do we now know about the genetic architecture of stroke? When and how should genetic testing be used to identify monogenic stroke? How can genetic information be applied to risk stratification and prevention? And what therapeutic implications are emerging from genetic discoveries? It highlights the success of genome-wide association studies in stroke and how these have transformed how we understand the genetic architecture of stroke. An increasing number of monogenic forms of cerebral small vessel disease are being identified, and guidance on when and how to test for them is covered. Polygenic risk scores are gaining increasing attention. How these can be applied, and the challenges in their use are discussed. Lastly, the impact of genomics on stroke therapeutics, whether by identifying new targets, assessing causality using techniques such as Mendelian randomization, or pharmacogenomics, is discussed.