Peshkin Beth N, Demarco Tiffani A, Graves Kristi D, Brown Karen, Nusbaum Rachel H, Moglia Diana, Forman Andrea, Valdimarsdottir Heiddis, Schwartz Marc D
Lombardi Comprehensive Cancer Center, Jess and Mildred Fisher Center for Familial Cancer Research Georgetown University, Washington, District of Columbia 20007-2401, USA.
Genet Test. 2008 Mar;12(1):37-52. doi: 10.1089/gte.2006.0525.
Genetic counseling and testing, particularly for adult onset conditions, has become increasingly available over the last decade, and it is expected that this trend will continue as additional genes are identified and as such testing diffuses into mainstream clinical care. To meet the increased demand for services, it will become necessary to explore alternative avenues to traditional face-to-face genetic counseling. One such modality is the use of telephone genetic counseling (TGC), which is easy to implement and still allows for comprehensive service delivery. Although TGC has been used with increased frequency, there is a paucity of data about its effectiveness and impact on important patient outcomes. This paper provides an overview of the evolution of telephone counseling in nongenetics and genetics settings. The rationale and aims of the largest randomized clinical trial to be performed with this mode of counseling in the context of cancer susceptibility testing for mutations in the BRCA1 and BRCA2 genes are also explained. In addition, procedural aspects of the genetic counseling intervention and the novel tools developed to facilitate this process and to ensure adequate counselor training and quality assurance are described.
在过去十年中,遗传咨询与检测,尤其是针对成人发病疾病的咨询与检测,已变得越来越普及。预计随着更多基因被识别以及此类检测融入主流临床护理,这一趋势将持续下去。为满足对服务日益增长的需求,有必要探索传统面对面遗传咨询之外的其他途径。其中一种方式是使用电话遗传咨询(TGC),它易于实施且仍能提供全面的服务。尽管TGC的使用频率有所增加,但关于其有效性以及对重要患者结局影响的数据却很匮乏。本文概述了非遗传学和遗传学领域电话咨询的发展历程。还解释了在针对BRCA1和BRCA2基因突变进行癌症易感性检测的背景下,采用这种咨询方式开展的最大规模随机临床试验的基本原理和目标。此外,还描述了遗传咨询干预的程序方面以及为促进这一过程、确保咨询师得到充分培训和质量保证而开发的新工具。