Harvey Erin K, Fogel Chana E, Peyrot Mark, Christensen Kurt D, Terry Sharon F, McInerney Joseph D
National Coalition for Health Professional Education in Genetics, Lutherville, Maryland 21093, USA.
Genet Med. 2007 May;9(5):259-67. doi: 10.1097/GIM.0b013e31805002f2.
Individuals affected by genetic conditions are increasingly likely to seek information about inheritance and risk factors from their primary care physicians rather than a geneticist, but several studies suggest that few health care providers are capable of fulfilling that role or are comfortable doing so. Acknowledging that the adoption of new genetics knowledge and technologies is often patient-driven, we asked affected individuals and family members about their experiences in encounters with a variety of nongenetics-trained health care providers.
Staff at the National Coalition for Health Professional Education in Genetics, the Genetic Alliance, and a University of Maryland graduate student in genetic counseling drafted a web-based survey. We recruited study participants from the Genetic Alliance, and a total of 5915 respondents completed the questionnaire between December 2004 and August 2005.
Overall, 64% of respondents reported receiving no genetics education materials from the provider type named most important in the management of the condition in the family. We present knowledge ratings for various provider types and themes emerging from written descriptions of positive and disappointing experiences.
We discuss the implications of these and other results for continuing genetics education and for clinical practice.
受遗传疾病影响的个体越来越倾向于从其初级保健医生而非遗传学家那里获取有关遗传和风险因素的信息，但多项研究表明，很少有医疗保健提供者能够胜任这一角色或对此感到得心应手。鉴于新的遗传学知识和技术的采用往往由患者推动，我们询问了受影响的个体及其家庭成员在与各类未接受过遗传学培训的医疗保健提供者接触时的经历。
美国国家遗传学卫生专业教育联盟、遗传联盟的工作人员以及马里兰大学一名遗传咨询专业的研究生起草了一份基于网络的调查问卷。我们从遗传联盟招募研究参与者，共有5915名受访者在2004年12月至2005年8月期间完成了问卷。
总体而言，64%的受访者表示未从在家庭疾病管理中被认为最重要的提供者类型那里收到遗传学教育材料。我们展示了各类提供者类型的知识评分以及从积极和令人失望的经历的书面描述中浮现出的主题。
我们讨论了这些结果及其他结果对持续遗传学教育和临床实践的影响。
