Mountcastle-Shah E, Holtzman N A
Genetics and Public Policy Studies, The Johns Hopkins Medical Institutions, Baltimore, Maryland 21205-2004, USA.
Am J Med Genet. 2000 Oct 23;94(5):409-16. doi: 10.1002/1096-8628(20001023)94:5<409::aid-ajmg13>3.0.co;2-u.
Our objective was to explore the barriers and motivations to: 1) appropriate diffusion of genetic services into primary care practice; and 2) primary care physicians' (PCPs) willingness to participate in clinical studies to assess the safety and effectiveness of emerging genetic technologies. A random sample (n = 994) of PCPs was invited to be interviewed. Of the 80 who agreed, 60 were interviewed, 52 by telephone. A semi-structured guide was used. A questionnaire mailed to 752 of the PCPs was used to elicit information from physicians who did not want to be interviewed. Among interviewees, uncertainty as to the clinical utility and clinical validity of predictive genetic testing were the leading barriers to incorporation of this technology into practice, being mentioned by 60 and 43% of subjects, respectively. Of the 100 (13. 3%) physicians returning the questionnaire who declined to be interviewed, 30% said they would be willing to participate in research on the safety and effectiveness of predictive genetic tests. Of those who were interviewed, 92% were willing to participate in such research. Most physicians do not see genetics as important in their practice today; many anticipate greater importance in the future. The proportion of physicians interested in participating in research to assess the safety and effectiveness of genetic tests is sufficient to make large scale, collaborative, practice-based evaluation feasible. Additionally, participation in research may serve as an effective medium for physician education in genetics.
1）将基因服务合理推广至初级保健实践中；2）初级保健医生（PCP）参与临床研究以评估新兴基因技术的安全性和有效性的意愿。我们邀请了一个PCP随机样本（n = 994）参与访谈。在同意参与的80人中，有60人接受了访谈，其中52人通过电话访谈。采用了半结构化指南。向752名PCP邮寄了问卷，以从不想接受访谈的医生那里获取信息。在受访者中，对预测性基因检测的临床实用性和临床有效性的不确定性是将该技术纳入实践的主要障碍，分别有60%和43%的受访者提到了这一点。在返回问卷且拒绝接受访谈的100名（13.3%）医生中，30%表示他们愿意参与预测性基因检测安全性和有效性的研究。在接受访谈的人中，92%愿意参与此类研究。如今，大多数医生认为遗传学在他们的实践中并不重要；许多人预计未来其重要性会增加。有兴趣参与评估基因检测安全性和有效性研究的医生比例足以使大规模、协作性的基于实践的评估成为可能。此外，参与研究可能是对医生进行遗传学教育的有效途径。
