Approved Research

Discovery of genetic markers and the development of clinically actionable polygenic risk scores for neurosurgical outcomes

Lay summary

It is the goal of this study to develop tools to screen patients for risk of developing conditions that would require neurosurgery. If we can identify these people before the condition occurs, through lifestyle, medication, and other techniques, many of these conditions may not occur for the patient, and those that do occur may result in improved outcomes. An example of this is a brain aneurysm. Often, these aneurysms are only detected once they rupture, requiring immediate surgery. However, if a patient's genes were to predict that they are at risk, they could be monitored to catch the aneurysm before it ruptures.

It is known that some neurosurgical conditions (such as cancer) are more or less likely to occur in a given patient based on certain known variables in their DNA. This genetic screening tool, a polygenic risk score, would take into account many alterations of a patient's personalized genome to determine their risk for multiple of these conditions including aneurysm, certain brain and spine cancers, and eventual need of spine surgery. During the development of the tool, the study would investigate which of these neurosurgical conditions are best able to be predicted by a patient's genome and thus have large genetic components. This is currently unknown in the field, and knowledge of this would be crucial in directing researchers' time and funding into appropriate studies for later therapeutic development.

The study will occur over the span of three years and prioritize the developments of generalizable, accessible risk prediction models that may be used to reduce treatment disparities by directing medical attention and effort at those who need it most.