Clinical Cardiovascular Genetic Counselors Take a Leading Role in Team-based Variant Classification
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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.
KeywordsVariant classification Cardiovascular Genetic testing Genetic counselor Genetic counseling Interpretation
We are grateful to the cardiovascular genetic counselors who participated in this study. KS is partially supported by the Indiana University Health – Indiana University School of Medicine Strategic Research Initiative.
Compliance with Ethical Standards
Conflicts of Interest
CR, KO, and MG declare that they have no conflict of interest.
CC has received honoraria for work as an advisor and/or consultant for Phosphorus, Recombine, Invitae, GeneDx, Gilead, Myokardia. She has also received royalties for a patent on genome interpretation technology and holds stock in Personalis.
KS has received honoraria for work as an Advisory Board member for Invitae.
Human Studies and Informed Consent
All procedures followed were in accordance with the ethical standards of the responsible committee on human experimentation (institutional and national) and with the Helsinki Declaration of 1975, as revised in 2000 (5). Informed consent was obtained from all patients for being included in the study.
No animal studies were carried out by the authors for this article
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