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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.
Nazir, Maryam and Noordenne, Maria van, "Clinical Implementation of Polygenic Risk Scores For Cardiovascular Disease: An Assessment of Cardiovascular Genetic Counselors' Knowledge and Opinions" (2020). Human Genetics Theses. 79.