Clinical Cardiovascular Genetic Counselors Take a Leading Role in Team-based Variant Classification |
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Authors: | Chloe Reuter Megan E. Grove Kate Orland Katherine Spoonamore Colleen Caleshu |
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Affiliation: | 1.Stanford Center for Inherited Cardiovascular Disease,Stanford University,Stanford,USA;2.Clinical Genomics Service,Stanford Health Care,Stanford,USA;3.Division of Medical Genetics,Stanford University,Stanford,USA;4.Division of Cardiovascular Medicine, School of Medicine and Public Health,University of Wisconsin-Madison,Madison,USA;5.Krannert Institute of Cardiology, Department of Medicine,Indiana University School of Medicine,Indianapolis,USA |
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Abstract: | We sought to delineate the genetic test review and interpretation practices of clinical cardiovascular genetic counselors. A one-time anonymous online survey was taken by 46 clinical cardiovascular genetic counselors recruited through the National Society of Genetic Counselors Cardiovascular Special Interest Group. Nearly all (95.7%) gather additional information on variants reported on clinical genetic test reports and most (81.4%) assess the classification of such variants. Clinical cardiovascular genetic counselors typically (81.0%) classify variants in collaboration with cardiologist and/or geneticist colleagues, with the genetic counselor as the team member who is primarily responsible. Variant classification is a relatively recent (mean 3.2 years) addition to practice. Most genetic counselors learned classification skills on the job from clinical and laboratory colleagues. Recent graduates were more likely to have learned this in graduate school (p?0.001). Genetic counselors are motivated to take responsibility for the classification of variants because of prior experiences with variant reclassification, inconsistencies between laboratories, and incomplete laboratory reports. They are also driven by a sense of professional duty and their proximity to the clinical context. This practice represents a broadening of the skill set of clinical cardiovascular genetic counselors and a unique expertise that they contribute to the interdisciplinary teams in which they work. |
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