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Clinical Cardiovascular Genetic Counselors Take a Leading Role in Team-based Variant Classification
Authors:Chloe Reuter  Megan E. Grove  Kate Orland  Katherine Spoonamore  Colleen Caleshu
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
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?
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