Swanson Amy, Ramos Erica, Snyder Holly
Department of Commercial Operations, Verinata Health, an Illumina company, 800 Saginaw Drive, Redwood City, CA, 94063, USA,
J Genet Couns. 2014 Aug;23(4):647-54. doi: 10.1007/s10897-013-9684-1. Epub 2014 Jan 17.
Next generation sequencing (NGS) is dramatically increasing the number of clinically available genetic tests and thus the number of patients in which such testing may be indicated. The complex nature and volume of the reported results requires professional interpretation of the testing in order to translate and synthesize the meaning and potential benefit to patients, and genetic counselors are uniquely suited to provide this service. The increased need for genetic counselors in this role, coupled with the time required and a limited number of trained and available counselors presents a challenge to current models for making genetic testing available to patients and their healthcare providers effectively and efficiently. The employment of genetic counselors at genetic/genomic laboratories is one model to expand the resources for providing this service. In this article, we briefly review the advent of NGS and its clinical applications, examine the core skills of genetic counselors and delineate the expanding roles and responsibilities of laboratory-based genetic counselors. We also propose changes to the genetic counseling training program curriculum to account for the increasing opportunities for genetic counselors to contribute and thrive within genetic testing laboratories.
下一代测序(NGS)正在极大地增加临床可用基因检测的数量,从而增加了可能需要进行此类检测的患者数量。所报告结果的复杂性和数量需要对检测进行专业解读,以便将其意义和潜在益处转化并综合起来告知患者,而遗传咨询师非常适合提供这项服务。对担任这一角色的遗传咨询师的需求增加,再加上所需时间以及经过培训且可提供服务的咨询师数量有限,这对当前有效地向患者及其医疗服务提供者提供基因检测的模式构成了挑战。在基因/基因组实验室雇佣遗传咨询师是一种扩大提供这项服务资源的模式。在本文中,我们简要回顾NGS的出现及其临床应用,审视遗传咨询师的核心技能,并阐述基于实验室的遗传咨询师不断扩大的角色和职责。我们还提议对遗传咨询培训项目课程进行改革,以适应遗传咨询师在基因检测实验室中发挥作用并蓬勃发展的机会不断增加的情况。