Copley T T, Wiggins S, Dufrasne S, Bloch M, Adam S, McKellin W, Hayden M R
Department of Medical Genetics, University of British Columbia, Vancouver, Canada.
Am J Med Genet. 1995 Jul 31;58(1):59-69. doi: 10.1002/ajmg.1320580113.
There are currently different research programs in place to assess the effects of predictive testing for a few late-onset disorders, including Huntington disease (HD) and familial cancers. Prior to providing predictive testing as a service, we sought the views of both the patients and the clinicians as to the importance and value of different items in a research protocol for HD. We mailed questionnaires to 41 clinicians and 351 at-risk patients who had participated in the research protocol, to solicit their opinions on the relative importance of various components of the HD predictive testing research protocol. Completed questionnaires were received from 256 patients (73%) and 33 clinicians (80%). Most participants (96%) were satisfied with the program, and < 3% of persons receiving a modification of risk felt that predictive testing had impaired their quality of life. While there was consensus on the importance of most components of the protocol, significantly more clinicians than patients (97% vs. 72%; P = 0.02) felt it was essential to keep written material about HD as part of a service protocol. More patients than clinicians (83% vs. 27%) considered it essential to have 24-hr contact numbers following disclosure of test results (P < 0.0001). Patients also felt more strongly about the importance of counseling about technical aspects of predictive testing (84% vs. 77%; P < 0.02), and about having a support person attend counselling sessions with the patient (62% vs. 48%; P = 0.04). Nearly 25% of participants indicated that they would not want their general practitioner routinely involved in the predictive testing program. These findings have influenced the development of our service protocol, and they underscore the importance of involving both providers and consumers of predictive testing in the development of a service protocol for genetic testing.
目前有不同的研究项目正在开展，以评估针对一些迟发性疾病进行预测性检测的效果，这些疾病包括亨廷顿舞蹈症（HD）和家族性癌症。在将预测性检测作为一项服务提供之前，我们就HD研究方案中不同项目的重要性和价值征求了患者和临床医生的意见。我们向41名临床医生和351名参与了该研究方案的高危患者邮寄了问卷，以征求他们对HD预测性检测研究方案各个组成部分相对重要性的看法。共收到256名患者（73%）和33名临床医生（80%）填写的问卷。大多数参与者（96%）对该项目感到满意，接受风险调整的人中不到3%的人认为预测性检测损害了他们的生活质量。虽然对于方案中大多数组成部分的重要性存在共识，但认为将关于HD的书面材料作为服务方案的一部分至关重要的临床医生明显多于患者（97%对72%；P = 0.02）。认为在披露检测结果后提供24小时联系电话至关重要的患者多于临床医生（83%对27%；P < 0.0001）。患者也更强烈地认为关于预测性检测技术方面咨询的重要性（84%对77%；P < 0.02），以及让一名支持人员与患者一同参加咨询会议的重要性（62%对48%；P = 0.04）。近25%的参与者表示他们不希望自己的全科医生常规参与预测性检测项目。这些发现影响了我们服务方案的制定，并且强调了在制定基因检测服务方案时让预测性检测的提供者和消费者都参与其中的重要性。
