Bernhardt B A, Biesecker B B, Mastromarino C L
Genetics and Public Policy Studies, Department of Pediatrics, Johns Hopkins School of Medicine, Baltimore, Maryland 21205, USA.
Am J Med Genet. 2000 Sep 18;94(3):189-97. doi: 10.1002/1096-8628(20000918)94:3<189::aid-ajmg3>3.0.co;2-e.
Most studies of outcomes of genetic counseling have focused on client knowledge, reproductive plans and behavior, or satisfaction. Other measures of the "value" of genetic counseling are needed to guide research assessing the impact of genetic counseling on individuals and populations, as well as to improve the process of providing care. To obtain input from providers, we conducted telephone interviews with six experienced genetic counselors, and then we held a focus group with 10 additional genetic counselors from a variety of practice settings. To obtain input from consumers, telephone interviews were also conducted with 19 past clients of these participating counselors. We found that counselor goals focus on meeting clients' needs, usually educating and providing psychosocial support. Clients often had few goals going into a session because they were unaware of what would be discussed or how the session would be structured. They usually did not expect to receive "counseling," and when they did, it was a welcome surprise. Both clients and counselors commented that a positive interpersonal interaction and "connecting" are primary measures of success. All clients appreciated the large amount of time spent with the counselor, and the manner (clear, comprehensive, and unhurried) of providing information. Many clients said that genetic counseling resulted in improved communication with their partners and other family members. Clients view the counselor as an "expert" and value the counselor as an on-going resource for both information and support. These "outcomes"f genetic counseling need to be assessed, and new measures must be developed.
大多数关于遗传咨询结果的研究都集中在客户知识、生育计划和行为或满意度上。需要其他衡量遗传咨询“价值”的指标来指导评估遗传咨询对个人和人群影响的研究，以及改进提供护理的过程。为了获取提供者的意见，我们对六位经验丰富的遗传咨询师进行了电话访谈，然后与来自不同实践环境的另外十位遗传咨询师举行了焦点小组讨论。为了获取消费者的意见，我们还对这些参与咨询的咨询师的19位过去的客户进行了电话访谈。我们发现咨询师的目标侧重于满足客户需求，通常是进行教育并提供心理社会支持。客户在咨询开始时通常没什么目标，因为他们不知道会讨论什么内容或咨询会如何安排。他们通常不期望得到“咨询”，而当他们得到时，这是一个惊喜。客户和咨询师都表示，积极的人际互动和“建立联系”是成功的主要衡量标准。所有客户都很感激与咨询师共度的大量时间，以及提供信息的方式（清晰、全面且从容）。许多客户表示，遗传咨询使他们与伴侣及其他家庭成员的沟通得到改善。客户将咨询师视为“专家”，并重视咨询师作为持续的信息和支持来源。这些遗传咨询的“结果”需要进行评估，并且必须制定新的衡量指标。
