Reuter Chloe, Grove Megan E, Orland Kate, Spoonamore Katherine, Caleshu Colleen
Stanford Center for Inherited Cardiovascular Disease, Stanford University, Stanford, CA, USA.
Clinical Genomics Service, Stanford Health Care, Stanford, CA, USA.
J Genet Couns. 2018 Aug;27(4):751-760. doi: 10.1007/s10897-017-0175-7. Epub 2017 Dec 12.
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.
我们试图描绘临床心血管遗传咨询师的基因检测审查与解读实践情况。通过美国遗传咨询师协会心血管特别兴趣小组招募了46名临床心血管遗传咨询师，他们参与了一项一次性的匿名在线调查。几乎所有（95.7%）的人都会收集临床基因检测报告中所报告变异的额外信息，并且大多数（81.4%）会评估此类变异的分类。临床心血管遗传咨询师通常（81.0%）会与心脏病专家和/或遗传学家同事合作对变异进行分类，其中遗传咨询师是主要负责的团队成员。变异分类是实践中相对较新（平均3.2年）才增加的内容。大多数遗传咨询师是在工作中从临床和实验室同事那里学到分类技能的。刚毕业的学生更有可能是在研究生阶段学到这方面知识的（p < 0.001）。由于之前有变异重新分类的经历、实验室之间的不一致以及实验室报告不完整等情况，遗传咨询师有动力对变异分类负责。他们也受到职业责任感以及与临床背景的紧密联系的驱使。这种实践代表了临床心血管遗传咨询师技能集的拓展以及他们为所在的跨学科团队贡献的独特专业知识。
