Introduction: Development of genomic technologies has an important impact on patient management in medicine. Nevertheless, translation of new advances of genomic medicine in primary care is challenging and needs to be adapted to the needs of health systems. Objective: The objective of this study was to analyze the current state of the use and the level of confidence in genetic management activities in everyday clinical practice of family practitioners (FPs) in Slovenia. Methods: We used a cross-sectional observational study design. The dataset was obtained through a questionnaire containing demographics, questions about the use of genetics in everyday practice, and a scale for measuring the responders’ confidence in their ability to carry out basic genetic activities during patient treatment. The questionnaire was sent by regular mail to every FP in Slovenia (N = 950). Results: The questionnaire was completed by a total of 271 physicians (response rate 28.5%), with an average physicians’ age of 45.5 ± 10.6 years. In their everyday clinical practice, the majority of Slovenian FPs report to encounter genetic conditions more than once a month (241, 91.2%). Family medical history is the most commonly used among all activities related to genetic management of patients. Only 5.9% of Slovenian FPs are confident in their ability to carry out basic activities related to genetic patient management. Most of them believe they are only competent enough to obtain family medical history and identify a positive family history. The FPs who reported a lower degree of confidence are those with the lowest level of education in the field of medical genetics and older physicians (age >50 years). Conclusions: Slovenian family physicians commonly encounter patients with genetic conditions but are not confident in their ability to carry out basic medical genetic tasks. Therefore, additional education is necessary.

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斯洛文尼亚家庭医生日常实践中的遗传学相关活动

简介：基因组技术的发展对医学中的患者管理具有重要影响。然而，将基因组医学的新进展转化为初级保健具有挑战性，需要适应卫生系统的需求。目的：本研究的目的是分析斯洛文尼亚家庭医生 (FP) 日常临床实践中基因管理活动的使用现状和信心水平。方法：我们使用横断面观察性研究设计。该数据集是通过一份问卷获得的，其中包含人口统计数据、有关遗传学在日常实践中使用的问题，以及衡量响应者在患者治疗期间进行基本遗传活动能力的信心的量表。问卷通过普通邮件发送给斯洛文尼亚的每个 FP（N = 950）。结果：共有271名医师完成了问卷调查（回应率为28.5%），医师平均年龄为45.5±10.6岁。在他们的日常临床实践中，大多数斯洛文尼亚 FP 报告每月遇到一次以上的遗传病 (241, 91.2%)。在与患者基因管理相关的所有活动中，家族病史是最常用的。只有 5.9% 的斯洛文尼亚 FP 对其开展与遗传患者管理相关的基本活动的能力充满信心。他们中的大多数人认为他们只能获得家族病史并确定阳性家族史。报告可信度较低的 FP 是那些在医学遗传学领域受教育程度最低的人和年龄较大的医生（年龄 >50 岁）。结论：斯洛文尼亚家庭医生通常会遇到患有遗传病的患者，但对其执行基本医学遗传任务的能力没有信心。因此，额外的教育是必要的。