Is it Time for Genomic Counseling? Retrofitting Genetic Counseling for the Era of Genomic Medicine

被引：0
作者：
Shana L. Merrill
Kimberly J. Guthrie
机构：
[1] Hospital of the University of Pennsylvania,Division of Translational Medicine and Human Genetics
[2] Mayo Clinic Florida,Center for Individualized Medicine
来源：
Current Genetic Medicine Reports | 2015年 / 3卷 / 2期
关键词：
Genetic counseling; Genomic medicine; Whole exome sequencing; Multi-gene panel testing; Psychosocial counseling; Case-based learning;
D O I：
10.1007/s40142-015-0068-8
中图分类号：
学科分类号：
摘要：
Over time, there has been a significant increase in clinical genetic testing technologies, including whole exome sequencing and large multi-gene panels, as well as the number of conditions for which testing is available, the settings in which testing is offered, and the utilization of a genotype-first evaluative strategy. Discussing the risks and benefits of each potentially appropriate test, including the possibility for incidental or uncertain findings, has added a level of informational complexity that did not exist when the original models of genetic counseling were developed. We review how genetic counseling paradigms have evolved over time, articulate some key differences between genetic and genomic counseling, and suggest a ‘back to basics’ approach that reprioritizes psychosocial counseling and the crafting of ‘take-home messages’ tailored to the motivation for and expectations of genetic evaluation. Additionally, we offer some practical approaches to exploring patients’ potential responses to testing outcomes.
引用
收藏
页码：57 / 64
页数：7
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