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Date of Award

5-2020

Document Type

Thesis - Campus Access Only

Abstract

Cardiovascular disease (CVD), a class of disorders that affect the heart or blood vessels, is a leading cause of death in the United States. Although CVD has a strong heritable component, a monogenic cause for disease can only be found in a few individuals. Recently, polygenic risk scores (PRS) have entered the market; these are single value estimates of the total genetic risk burden of a disease over multiple susceptibility variants (Garcia-Closas, 2016). PRS can stratify risk and identify at-risk individuals who would not be detected using current screening measures; however, presently no guidelines exist for their development or application. Although there are mixed opinions on the utility of PRS, in a consumer-driven marketplace the expansion of PRS into healthcare is inevitable. The current study aims to explore cardiovascular genetic counselors’ opinions and knowledge on the use of PRS for CVD. Forty-six genetic counselors practicing in the area of cardiovascular genetics responded to a survey which included an assessment of knowledge, opinions on ordering PRS and on PRS generally, ranking of obstacles to the clinical implementation of PRS, and an open-ended question. Knowledge on PRS was high overall, but there was a clear need for more education and training as many cardiovascular genetic counselors felt skeptical and unprepared. In addition, there were diverging opinions with regards to if and when a validated PRS should be ordered. Validation of PRS across ethnicities was identified as one of the most important issues to cardiovascular genetic counselors, and this group stated a great need for more evidence of clinical validity and utility in general. Before PRS for CVD are implemented in clinical practice, guidelines must be created which address who to order a PRS for, how to interpret and apply PRS in clinical care, and the limitations of these scores.

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