针对基因组筛查阳性结果患者的遗传咨询：当遗传检测先行时的考虑因素。
Genetic counseling for patients with positive genomic screening results: Considerations for when the genetic test comes first.
机构信息
Genomic Medicine Institute, Geisinger, Danville, PA, USA.
The Heart Institute, Geisinger, Danville, PA, USA.
出版信息
J Genet Couns. 2021 Jun;30(3):634-644. doi: 10.1002/jgc4.1386. Epub 2021 Mar 31.
Abstract
Emerging genetic testing delivery models have enabled individuals to receive testing without a medical indication. This article will highlight key considerations for patient care in the setting of adult patients with positive results for monogenic disease identified through genomic screening. Suggestions for how to adapt genetic counseling to a genomic screening population will encompass topics such as phenotyping, risk assessments, and the use of existing guidelines and resources. Case examples will demonstrate principles of genotype-first patient care.
摘要
新兴的基因检测交付模式使个体能够在没有医疗指征的情况下接受检测。本文将重点介绍在通过基因组筛查发现单基因疾病阳性结果的成年患者中，患者护理的关键考虑因素。关于如何将遗传咨询适应于基因组筛查人群的建议将涵盖表型分析、风险评估以及使用现有指南和资源等主题。案例示例将展示基于基因型的患者护理原则。
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