Center for Fetal Diagnosis and Therapy, Wayne State University Physician's Group, Detroit, MI 48201, USA.
Genet Med. 2011 Apr;13(4):325-32. doi: 10.1097/GIM.0b013e3182011636.
Direct-to-consumer genetic testing is a new means of obtaining genetic testing outside of a traditional clinical setting. This study assesses genetic counselors' experience, knowledge, and beliefs regarding direct-to-consumer genetic testing for tests that would currently be offered in genetics clinics.
Members of the National Society of Genetic Counselors completed a web-administered survey in February 2008.
Response rate was 36%; the final data analysis included 312 respondents. Eighty-three percent of respondents had two or fewer inquiries about direct-to-consumer genetic testing, and 14% had received requests for test interpretation or discussion. Respondents believed that genetic counselors have a professional obligation to be knowledgeable about direct-to-consumer genetic testing (55%) and interpret results (48%). Fifty-one percent of respondents thought genetic testing should be limited to a clinical setting; 56% agreed direct-to-consumer genetic testing is acceptable if genetic counseling is provided. More than 70% of respondents would definitely or possibly consider direct-to-consumer testing for patients who (1) have concerns about genetic discrimination, (2) want anonymous testing, or (3) have geographic constraints.
Results indicate that genetic counselors have limited patient experiences with direct-to-consumer genetic testing and are cautiously considering if and under what circumstances this approach should be used.
直接面向消费者的基因检测是一种在传统临床环境之外获得基因检测的新方法。本研究评估了遗传咨询师对直接面向消费者的基因检测的经验、知识和信念，这些检测目前将在遗传诊所提供。
国家遗传咨询师协会的成员于 2008 年 2 月完成了一项网络管理调查。
回复率为 36%；最终数据分析包括 312 名受访者。83%的受访者有两个或更少的关于直接面向消费者的基因检测的咨询，14%的受访者收到了测试解释或讨论的请求。受访者认为遗传咨询师有专业义务了解直接面向消费者的基因检测（55%）和解释结果（48%）。51%的受访者认为基因检测应该限于临床环境；56%的人同意如果提供遗传咨询，直接面向消费者的基因检测是可以接受的。超过 70%的受访者肯定或可能会考虑为有以下情况的患者进行直接面向消费者的检测：（1）对遗传歧视有担忧，（2）希望匿名检测，或（3）有地理限制。
结果表明，遗传咨询师对直接面向消费者的基因检测的患者经验有限，正在谨慎考虑是否以及在何种情况下应使用这种方法。
