Hussein Norita, Malik Tun Firzara Abdul, Salim Hani, Samad Azah, Qureshi Nadeem, Ng Chirk Jenn
Department of Primary Care Medicine, Faculty of Medicine, University of Malaya, Kuala Lumpur, Malaysia.
Department of Family Medicine, Faculty of Medicine and Health Sciences, Universiti Putra Malaysia, Seri Kembangan, Selangor, Malaysia.
J Community Genet. 2020 Oct;11(4):413-420. doi: 10.1007/s12687-020-00476-2. Epub 2020 Jul 14.
Family history has long been recognised as a non-invasive and inexpensive tool to identify individuals at risk of genetic conditions. Even in the era of evolving genetic and genomic technology, the role of family history in predicting individual risk for genetic testing and guiding in preventive interventions is still relevant, especially in low-resource countries. The aim of this study was to explore primary care doctors' views and experiences in family history taking and how they utilised family history in day-to-day clinical consultations in Malaysia. Four focus group discussions and six in-depth interviews involving 25 primary care doctors were conducted. Three themes emerged from the analysis: (1) primary care doctors considered family history as an important part of clinical assessment, (2) proactive versus reactive approach in collecting family history and (3) family history collection was variable and challenging. Family history was documented in either free text or pedigree depending on the perception of its appropriateness during the consultation. This study highlighted the need to improve the approach, documentation and the implementation of family history in the Malaysian primary care settings. Integrating family filing concept with built-in clinical decision support into electronic medical records is a potential solution in ensuring effective family history taking in primary care.
长期以来，家族史一直被视为一种识别有遗传疾病风险个体的非侵入性且低成本的工具。即使在遗传和基因组技术不断发展的时代，家族史在预测个体基因检测风险以及指导预防干预方面的作用仍然具有现实意义，尤其是在资源匮乏的国家。本研究的目的是探讨马来西亚基层医疗医生在采集家族史方面的观点和经验，以及他们在日常临床会诊中如何利用家族史。研究开展了四次焦点小组讨论和六次深入访谈，涉及25名基层医疗医生。分析得出了三个主题：（1）基层医疗医生认为家族史是临床评估的重要组成部分；（2）采集家族史的主动与被动方式；（3）家族史采集存在差异且具有挑战性。根据会诊期间对其适用性的判断，家族史以自由文本或系谱图的形式记录。本研究强调了在马来西亚基层医疗环境中改进家族史采集方法、记录方式及实施情况的必要性。将家族档案概念与内置临床决策支持功能整合到电子病历中，是确保基层医疗中有效采集家族史的一种潜在解决方案。
