初级保健医生获取遗传专家的途径：是否妨碍了基因组医学的常规应用？
Primary-care physicians' access to genetic specialists: an impediment to the routine use of genomic medicine?
机构信息
Institute for Genome Sciences & Policy, Duke University, Durham, North Carolina, USA.
出版信息
Genet Med. 2013 Jul;15(7):513-4. doi: 10.1038/gim.2012.168. Epub 2013 Jan 10.
PURPOSE
The field of genomic medicine is moving beyond the domain of medical specialties into general care. As a result, primary care practitioners (PCPs) will be faced with questions regarding the interpretation, use, and application of genetic and genomic testing. Several studies have demonstrated the variable knowledge of PCPs, but few have assessed PCPs access to genetic specialists and how that may influence test use. As part of a survey of PCPs on pharmacogenetic testing, we assessed PCP access to genetic specialists and its association with referrals and test ordering.
METHODS
We conducted an online/mail survey of a national sample of PCPs in the U.S.
RESULTS
Survey data indicate that PCP access to genetic specialists is limited, particularly to those practicing outside of academic medical centers, negatively impacting test ordering practices.
CONCLUSION
Given the small number of clinical genetic specialists, collaborative approaches are needed to develop educational and clinical resources to prepare and guide the safe and appropriate use of testing by future and current general practitioners, respectively.
目的
基因组医学领域正逐渐超越医学专业领域，进入常规医疗服务领域。因此，初级保健医生（PCP）将面临有关遗传和基因组检测的解释、使用和应用的问题。有几项研究表明 PCP 的知识水平存在差异，但很少有研究评估 PCP 获得遗传专家的途径以及这可能如何影响检测的使用。作为对 PCP 进行药物遗传学检测的调查的一部分，我们评估了 PCP 获得遗传专家的途径及其与转诊和检测订购的关系。
方法
我们对美国全国范围内的 PCP 进行了在线/邮件调查。
结果
调查数据表明，PCP 获得遗传专家的途径有限，特别是在学术医疗中心以外行医的医生，这对检测订购实践产生了负面影响。
结论
鉴于临床遗传专家人数较少，需要采取协作方法来开发教育和临床资源，分别为未来和当前的全科医生做好准备并指导他们安全、适当地使用检测。
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