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荷兰心脏病专家的遗传学知识与咨询技能:足以应对基因组学时代吗?

Genetic knowledge and counselling skills of Dutch cardiologists: sufficient for the genomics era?

作者信息

van Langen I M, Birnie E, Leschot N J, Bonsel G J, Wilde A A M

机构信息

Department of Clinical Genetics, Academic Medical Centre, Amsterdam, The Netherlands.

出版信息

Eur Heart J. 2003 Mar;24(6):560-6. doi: 10.1016/s0195-668x(02)00522-5.

Abstract

AIMS

Genetic scientific knowledge is growing rapidly but how this affects clinical practice is unclear. We investigated the levels of knowledge, practical skills and clinical genetic practices of Dutch cardiologists.

METHODS AND RESULTS

A survey was designed to assess cardiologists' experience with genetic aspects of hypertrophic cardiomyopathy, self-reported genetic knowledge, and genetic skills in general and aimed at this disease. In addition, cardiologists' opinions on five possible measures for improvement were obtained.

STUDY POPULATION

all Dutch cardiologists (n=643). Median number of patients suffering from hypertrophic cardiomyopathy per cardiologist is five. Forty-one percent of respondents do not give information about genetics to all their patients. Cardiologists rarely initiate DNA tests for hypertrophic cardiomyopathy. Only 38% refer patients to clinical geneticists. Self-reported knowledge levels are low (average score 3.3-5.1, 0-10 scale). Cardiologists with an established working relationship with a clinical geneticist report significantly higher levels of knowledge. Clinical guidelines, education and improved collaboration with clinical geneticists are preferred.

CONCLUSION

Dutch cardiologists' genetic knowledge and clinical genetic practice levels are insufficient. As a result, clinical genetic care for patients with hypertrophic cardiomyopathy is poor. Improvements proposed include advancement of knowledge (education, professional guidelines) and structural measures (working relationships, multidisciplinary outpatient clinics). Collaboration of cardiologists and clinical geneticists is urgently needed to optimise cardiogenetic patient care.

摘要

目的

遗传学科学知识增长迅速,但这如何影响临床实践尚不清楚。我们调查了荷兰心脏病专家的知识水平、实践技能和临床遗传学实践情况。

方法与结果

设计了一项调查,以评估心脏病专家在肥厚型心肌病遗传学方面的经验、自我报告的遗传学知识以及一般和针对该疾病的遗传技能。此外,还获取了心脏病专家对五项可能改进措施的意见。

研究人群

所有荷兰心脏病专家(n = 643)。每位心脏病专家治疗的肥厚型心肌病患者中位数为5例。41%的受访者不会向所有患者提供遗传学信息。心脏病专家很少启动针对肥厚型心肌病的DNA检测。只有38%的人会将患者转诊给临床遗传学家。自我报告的知识水平较低(平均得分3.3 - 5.1,0 - 10分制)。与临床遗传学家建立了工作关系的心脏病专家报告的知识水平明显更高。临床指南、教育以及与临床遗传学家加强合作是首选。

结论

荷兰心脏病专家的遗传学知识和临床遗传学实践水平不足。因此,对肥厚型心肌病患者的临床遗传学护理较差。建议的改进措施包括知识提升(教育、专业指南)和结构性措施(工作关系、多学科门诊)。迫切需要心脏病专家和临床遗传学家合作,以优化心脏遗传学患者护理。

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